← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 4-113369660-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=113369660&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 113369660,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000357077.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11465G>C",
"hgvs_p": "p.Gly3822Ala",
"transcript": "NM_001148.6",
"protein_id": "NP_001139.3",
"transcript_support_level": null,
"aa_start": 3822,
"aa_end": null,
"aa_length": 3957,
"cds_start": 11465,
"cds_end": null,
"cds_length": 11874,
"cdna_start": 11541,
"cdna_end": null,
"cdna_length": 14215,
"mane_select": "ENST00000357077.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11465G>C",
"hgvs_p": "p.Gly3822Ala",
"transcript": "ENST00000357077.9",
"protein_id": "ENSP00000349588.4",
"transcript_support_level": 1,
"aa_start": 3822,
"aa_end": null,
"aa_length": 3957,
"cds_start": 11465,
"cds_end": null,
"cds_length": 11874,
"cdna_start": 11541,
"cdna_end": null,
"cdna_length": 14215,
"mane_select": "NM_001148.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11606G>C",
"hgvs_p": "p.Gly3869Ala",
"transcript": "ENST00000506344.6",
"protein_id": "ENSP00000422888.2",
"transcript_support_level": 1,
"aa_start": 3869,
"aa_end": null,
"aa_length": 4183,
"cds_start": 11606,
"cds_end": null,
"cds_length": 12552,
"cdna_start": 11856,
"cdna_end": null,
"cdna_length": 14898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5210G>C",
"hgvs_p": "p.Gly1737Ala",
"transcript": "ENST00000394537.7",
"protein_id": "ENSP00000378044.3",
"transcript_support_level": 1,
"aa_start": 1737,
"aa_end": null,
"aa_length": 1872,
"cds_start": 5210,
"cds_end": null,
"cds_length": 5619,
"cdna_start": 5263,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5183G>C",
"hgvs_p": "p.Gly1728Ala",
"transcript": "ENST00000506722.5",
"protein_id": "ENSP00000421067.1",
"transcript_support_level": 1,
"aa_start": 1728,
"aa_end": null,
"aa_length": 1863,
"cds_start": 5183,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 5378,
"cdna_end": null,
"cdna_length": 8051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2213G>C",
"hgvs_p": "p.Gly738Ala",
"transcript": "ENST00000514960.5",
"protein_id": "ENSP00000422853.1",
"transcript_support_level": 1,
"aa_start": 738,
"aa_end": null,
"aa_length": 965,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 5160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.1892G>C",
"hgvs_p": "p.Gly631Ala",
"transcript": "ENST00000510275.8",
"protein_id": "ENSP00000421023.4",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 683,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11606G>C",
"hgvs_p": "p.Gly3869Ala",
"transcript": "NM_001386174.1",
"protein_id": "NP_001373103.1",
"transcript_support_level": null,
"aa_start": 3869,
"aa_end": null,
"aa_length": 4183,
"cds_start": 11606,
"cds_end": null,
"cds_length": 12552,
"cdna_start": 11856,
"cdna_end": null,
"cdna_length": 14898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11582G>C",
"hgvs_p": "p.Gly3861Ala",
"transcript": "NM_001386175.1",
"protein_id": "NP_001373104.1",
"transcript_support_level": null,
"aa_start": 3861,
"aa_end": null,
"aa_length": 4175,
"cds_start": 11582,
"cds_end": null,
"cds_length": 12528,
"cdna_start": 11832,
"cdna_end": null,
"cdna_length": 14874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11303G>C",
"hgvs_p": "p.Gly3768Ala",
"transcript": "ENST00000672209.1",
"protein_id": "ENSP00000499982.1",
"transcript_support_level": null,
"aa_start": 3768,
"aa_end": null,
"aa_length": 3995,
"cds_start": 11303,
"cds_end": null,
"cds_length": 11988,
"cdna_start": 11502,
"cdna_end": null,
"cdna_length": 14932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11546G>C",
"hgvs_p": "p.Gly3849Ala",
"transcript": "ENST00000672240.1",
"protein_id": "ENSP00000500548.1",
"transcript_support_level": null,
"aa_start": 3849,
"aa_end": null,
"aa_length": 3984,
"cds_start": 11546,
"cds_end": null,
"cds_length": 11955,
"cdna_start": 12139,
"cdna_end": null,
"cdna_length": 15298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11510G>C",
"hgvs_p": "p.Gly3837Ala",
"transcript": "ENST00000671971.1",
"protein_id": "ENSP00000499832.1",
"transcript_support_level": null,
"aa_start": 3837,
"aa_end": null,
"aa_length": 3972,
"cds_start": 11510,
"cds_end": null,
"cds_length": 11919,
"cdna_start": 12103,
"cdna_end": null,
"cdna_length": 15262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11303G>C",
"hgvs_p": "p.Gly3768Ala",
"transcript": "ENST00000673298.1",
"protein_id": "ENSP00000500245.1",
"transcript_support_level": null,
"aa_start": 3768,
"aa_end": null,
"aa_length": 3964,
"cds_start": 11303,
"cds_end": null,
"cds_length": 11895,
"cdna_start": 11502,
"cdna_end": null,
"cdna_length": 14363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11303G>C",
"hgvs_p": "p.Gly3768Ala",
"transcript": "ENST00000503423.6",
"protein_id": "ENSP00000421011.2",
"transcript_support_level": 5,
"aa_start": 3768,
"aa_end": null,
"aa_length": 3961,
"cds_start": 11303,
"cds_end": null,
"cds_length": 11886,
"cdna_start": 11502,
"cdna_end": null,
"cdna_length": 12641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11231G>C",
"hgvs_p": "p.Gly3744Ala",
"transcript": "NM_001386142.1",
"protein_id": "NP_001373071.1",
"transcript_support_level": null,
"aa_start": 3744,
"aa_end": null,
"aa_length": 3940,
"cds_start": 11231,
"cds_end": null,
"cds_length": 11823,
"cdna_start": 11430,
"cdna_end": null,
"cdna_length": 14287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11411G>C",
"hgvs_p": "p.Gly3804Ala",
"transcript": "ENST00000673363.1",
"protein_id": "ENSP00000500539.1",
"transcript_support_level": null,
"aa_start": 3804,
"aa_end": null,
"aa_length": 3939,
"cds_start": 11411,
"cds_end": null,
"cds_length": 11820,
"cdna_start": 12004,
"cdna_end": null,
"cdna_length": 15163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11402G>C",
"hgvs_p": "p.Gly3801Ala",
"transcript": "ENST00000672830.1",
"protein_id": "ENSP00000500222.1",
"transcript_support_level": null,
"aa_start": 3801,
"aa_end": null,
"aa_length": 3936,
"cds_start": 11402,
"cds_end": null,
"cds_length": 11811,
"cdna_start": 11612,
"cdna_end": null,
"cdna_length": 14771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11303G>C",
"hgvs_p": "p.Gly3768Ala",
"transcript": "ENST00000672068.1",
"protein_id": "ENSP00000499902.1",
"transcript_support_level": null,
"aa_start": 3768,
"aa_end": null,
"aa_length": 3934,
"cds_start": 11303,
"cds_end": null,
"cds_length": 11805,
"cdna_start": 11502,
"cdna_end": null,
"cdna_length": 14485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11366G>C",
"hgvs_p": "p.Gly3789Ala",
"transcript": "ENST00000264366.10",
"protein_id": "ENSP00000264366.6",
"transcript_support_level": 5,
"aa_start": 3789,
"aa_end": null,
"aa_length": 3924,
"cds_start": 11366,
"cds_end": null,
"cds_length": 11775,
"cdna_start": 11366,
"cdna_end": null,
"cdna_length": 11775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11366G>C",
"hgvs_p": "p.Gly3789Ala",
"transcript": "ENST00000672502.1",
"protein_id": "ENSP00000499870.1",
"transcript_support_level": null,
"aa_start": 3789,
"aa_end": null,
"aa_length": 3924,
"cds_start": 11366,
"cds_end": null,
"cds_length": 11775,
"cdna_start": 11573,
"cdna_end": null,
"cdna_length": 14732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11339G>C",
"hgvs_p": "p.Gly3780Ala",
"transcript": "ENST00000671809.1",
"protein_id": "ENSP00000500872.1",
"transcript_support_level": null,
"aa_start": 3780,
"aa_end": null,
"aa_length": 3915,
"cds_start": 11339,
"cds_end": null,
"cds_length": 11748,
"cdna_start": 11538,
"cdna_end": null,
"cdna_length": 14697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11303G>C",
"hgvs_p": "p.Gly3768Ala",
"transcript": "ENST00000672090.1",
"protein_id": "ENSP00000500540.1",
"transcript_support_level": null,
"aa_start": 3768,
"aa_end": null,
"aa_length": 3903,
"cds_start": 11303,
"cds_end": null,
"cds_length": 11712,
"cdna_start": 11502,
"cdna_end": null,
"cdna_length": 14661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11279G>C",
"hgvs_p": "p.Gly3760Ala",
"transcript": "ENST00000671906.1",
"protein_id": "ENSP00000499953.1",
"transcript_support_level": null,
"aa_start": 3760,
"aa_end": null,
"aa_length": 3895,
"cds_start": 11279,
"cds_end": null,
"cds_length": 11688,
"cdna_start": 11478,
"cdna_end": null,
"cdna_length": 14637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11267G>C",
"hgvs_p": "p.Gly3756Ala",
"transcript": "ENST00000672251.1",
"protein_id": "ENSP00000500580.1",
"transcript_support_level": null,
"aa_start": 3756,
"aa_end": null,
"aa_length": 3891,
"cds_start": 11267,
"cds_end": null,
"cds_length": 11676,
"cdna_start": 11447,
"cdna_end": null,
"cdna_length": 14606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11240G>C",
"hgvs_p": "p.Gly3747Ala",
"transcript": "ENST00000673573.1",
"protein_id": "ENSP00000500883.1",
"transcript_support_level": null,
"aa_start": 3747,
"aa_end": null,
"aa_length": 3882,
"cds_start": 11240,
"cds_end": null,
"cds_length": 11649,
"cdna_start": 11440,
"cdna_end": null,
"cdna_length": 14599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11303G>C",
"hgvs_p": "p.Gly3768Ala",
"transcript": "ENST00000673555.1",
"protein_id": "ENSP00000500947.1",
"transcript_support_level": null,
"aa_start": 3768,
"aa_end": null,
"aa_length": 3879,
"cds_start": 11303,
"cds_end": null,
"cds_length": 11640,
"cdna_start": 11502,
"cdna_end": null,
"cdna_length": 14092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11282G>C",
"hgvs_p": "p.Gly3761Ala",
"transcript": "ENST00000671882.1",
"protein_id": "ENSP00000499887.1",
"transcript_support_level": null,
"aa_start": 3761,
"aa_end": null,
"aa_length": 3874,
"cds_start": 11282,
"cds_end": null,
"cds_length": 11625,
"cdna_start": 11282,
"cdna_end": null,
"cdna_length": 13878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11204G>C",
"hgvs_p": "p.Gly3735Ala",
"transcript": "ENST00000672934.1",
"protein_id": "ENSP00000500645.1",
"transcript_support_level": null,
"aa_start": 3735,
"aa_end": null,
"aa_length": 3870,
"cds_start": 11204,
"cds_end": null,
"cds_length": 11613,
"cdna_start": 11404,
"cdna_end": null,
"cdna_length": 14563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11180G>C",
"hgvs_p": "p.Gly3727Ala",
"transcript": "ENST00000673109.1",
"protein_id": "ENSP00000500265.1",
"transcript_support_level": null,
"aa_start": 3727,
"aa_end": null,
"aa_length": 3862,
"cds_start": 11180,
"cds_end": null,
"cds_length": 11589,
"cdna_start": 11379,
"cdna_end": null,
"cdna_length": 14538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11303G>C",
"hgvs_p": "p.Gly3768Ala",
"transcript": "ENST00000672930.1",
"protein_id": "ENSP00000499913.1",
"transcript_support_level": null,
"aa_start": 3768,
"aa_end": null,
"aa_length": 3848,
"cds_start": 11303,
"cds_end": null,
"cds_length": 11547,
"cdna_start": 11502,
"cdna_end": null,
"cdna_length": 13999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11303G>C",
"hgvs_p": "p.Gly3768Ala",
"transcript": "ENST00000673334.1",
"protein_id": "ENSP00000500854.1",
"transcript_support_level": null,
"aa_start": 3768,
"aa_end": null,
"aa_length": 3820,
"cds_start": 11303,
"cds_end": null,
"cds_length": 11463,
"cdna_start": 11502,
"cdna_end": null,
"cdna_length": 13915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7865G>C",
"hgvs_p": "p.Gly2622Ala",
"transcript": "NM_001386166.1",
"protein_id": "NP_001373095.1",
"transcript_support_level": null,
"aa_start": 2622,
"aa_end": null,
"aa_length": 2757,
"cds_start": 7865,
"cds_end": null,
"cds_length": 8274,
"cdna_start": 7968,
"cdna_end": null,
"cdna_length": 10642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5147G>C",
"hgvs_p": "p.Gly1716Ala",
"transcript": "NM_001386143.1",
"protein_id": "NP_001373072.1",
"transcript_support_level": null,
"aa_start": 1716,
"aa_end": null,
"aa_length": 1943,
"cds_start": 5147,
"cds_end": null,
"cds_length": 5832,
"cdna_start": 5346,
"cdna_end": null,
"cdna_length": 8296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5147G>C",
"hgvs_p": "p.Gly1716Ala",
"transcript": "ENST00000671793.1",
"protein_id": "ENSP00000499928.1",
"transcript_support_level": null,
"aa_start": 1716,
"aa_end": null,
"aa_length": 1943,
"cds_start": 5147,
"cds_end": null,
"cds_length": 5832,
"cdna_start": 5357,
"cdna_end": null,
"cdna_length": 8303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5222G>C",
"hgvs_p": "p.Gly1741Ala",
"transcript": "NM_001354225.2",
"protein_id": "NP_001341154.1",
"transcript_support_level": null,
"aa_start": 1741,
"aa_end": null,
"aa_length": 1937,
"cds_start": 5222,
"cds_end": null,
"cds_length": 5814,
"cdna_start": 5537,
"cdna_end": null,
"cdna_length": 8394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5111G>C",
"hgvs_p": "p.Gly1704Ala",
"transcript": "NM_001354228.2",
"protein_id": "NP_001341157.1",
"transcript_support_level": null,
"aa_start": 1704,
"aa_end": null,
"aa_length": 1931,
"cds_start": 5111,
"cds_end": null,
"cds_length": 5796,
"cdna_start": 5426,
"cdna_end": null,
"cdna_length": 8376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5111G>C",
"hgvs_p": "p.Gly1704Ala",
"transcript": "ENST00000671727.1",
"protein_id": "ENSP00000500102.1",
"transcript_support_level": null,
"aa_start": 1704,
"aa_end": null,
"aa_length": 1931,
"cds_start": 5111,
"cds_end": null,
"cds_length": 5796,
"cdna_start": 5318,
"cdna_end": null,
"cdna_length": 8257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5195G>C",
"hgvs_p": "p.Gly1732Ala",
"transcript": "NM_001386186.2",
"protein_id": "NP_001373115.1",
"transcript_support_level": null,
"aa_start": 1732,
"aa_end": null,
"aa_length": 1928,
"cds_start": 5195,
"cds_end": null,
"cds_length": 5787,
"cdna_start": 5719,
"cdna_end": null,
"cdna_length": 8576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5189G>C",
"hgvs_p": "p.Gly1730Ala",
"transcript": "NM_001354230.2",
"protein_id": "NP_001341159.1",
"transcript_support_level": null,
"aa_start": 1730,
"aa_end": null,
"aa_length": 1926,
"cds_start": 5189,
"cds_end": null,
"cds_length": 5781,
"cdna_start": 5470,
"cdna_end": null,
"cdna_length": 8327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5255G>C",
"hgvs_p": "p.Gly1752Ala",
"transcript": "NM_001386144.1",
"protein_id": "NP_001373073.1",
"transcript_support_level": null,
"aa_start": 1752,
"aa_end": null,
"aa_length": 1918,
"cds_start": 5255,
"cds_end": null,
"cds_length": 5757,
"cdna_start": 5536,
"cdna_end": null,
"cdna_length": 8303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5252G>C",
"hgvs_p": "p.Gly1751Ala",
"transcript": "NM_001354231.2",
"protein_id": "NP_001341160.1",
"transcript_support_level": null,
"aa_start": 1751,
"aa_end": null,
"aa_length": 1917,
"cds_start": 5252,
"cds_end": null,
"cds_length": 5754,
"cdna_start": 5533,
"cdna_end": null,
"cdna_length": 8300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5246G>C",
"hgvs_p": "p.Gly1749Ala",
"transcript": "NM_001354232.2",
"protein_id": "NP_001341161.1",
"transcript_support_level": null,
"aa_start": 1749,
"aa_end": null,
"aa_length": 1915,
"cds_start": 5246,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 5561,
"cdna_end": null,
"cdna_length": 8328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5246G>C",
"hgvs_p": "p.Gly1749Ala",
"transcript": "ENST00000671762.1",
"protein_id": "ENSP00000500954.1",
"transcript_support_level": null,
"aa_start": 1749,
"aa_end": null,
"aa_length": 1915,
"cds_start": 5246,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 5453,
"cdna_end": null,
"cdna_length": 8690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5048G>C",
"hgvs_p": "p.Gly1683Ala",
"transcript": "ENST00000673430.1",
"protein_id": "ENSP00000500269.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1910,
"cds_start": 5048,
"cds_end": null,
"cds_length": 5733,
"cdna_start": 5247,
"cdna_end": null,
"cdna_length": 8186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5207G>C",
"hgvs_p": "p.Gly1736Ala",
"transcript": "NM_001354235.2",
"protein_id": "NP_001341164.1",
"transcript_support_level": null,
"aa_start": 1736,
"aa_end": null,
"aa_length": 1902,
"cds_start": 5207,
"cds_end": null,
"cds_length": 5709,
"cdna_start": 5522,
"cdna_end": null,
"cdna_length": 8289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5108G>C",
"hgvs_p": "p.Gly1703Ala",
"transcript": "NM_001354236.2",
"protein_id": "NP_001341165.1",
"transcript_support_level": null,
"aa_start": 1703,
"aa_end": null,
"aa_length": 1899,
"cds_start": 5108,
"cds_end": null,
"cds_length": 5700,
"cdna_start": 5423,
"cdna_end": null,
"cdna_length": 8280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5291G>C",
"hgvs_p": "p.Gly1764Ala",
"transcript": "ENST00000705785.1",
"protein_id": "ENSP00000516169.1",
"transcript_support_level": null,
"aa_start": 1764,
"aa_end": null,
"aa_length": 1899,
"cds_start": 5291,
"cds_end": null,
"cds_length": 5700,
"cdna_start": 5572,
"cdna_end": null,
"cdna_length": 8246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5288G>C",
"hgvs_p": "p.Gly1763Ala",
"transcript": "NM_001354237.2",
"protein_id": "NP_001341166.1",
"transcript_support_level": null,
"aa_start": 1763,
"aa_end": null,
"aa_length": 1898,
"cds_start": 5288,
"cds_end": null,
"cds_length": 5697,
"cdna_start": 5569,
"cdna_end": null,
"cdna_length": 8243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5183G>C",
"hgvs_p": "p.Gly1728Ala",
"transcript": "ENST00000672362.1",
"protein_id": "ENSP00000500522.1",
"transcript_support_level": null,
"aa_start": 1728,
"aa_end": null,
"aa_length": 1894,
"cds_start": 5183,
"cds_end": null,
"cds_length": 5685,
"cdna_start": 5382,
"cdna_end": null,
"cdna_length": 8619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5180G>C",
"hgvs_p": "p.Gly1727Ala",
"transcript": "NM_001354239.2",
"protein_id": "NP_001341168.1",
"transcript_support_level": null,
"aa_start": 1727,
"aa_end": null,
"aa_length": 1893,
"cds_start": 5180,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 5379,
"cdna_end": null,
"cdna_length": 8146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4991G>C",
"hgvs_p": "p.Gly1664Ala",
"transcript": "NM_001386146.1",
"protein_id": "NP_001373075.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1891,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5676,
"cdna_start": 5190,
"cdna_end": null,
"cdna_length": 8140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5084G>C",
"hgvs_p": "p.Gly1695Ala",
"transcript": "ENST00000672990.1",
"protein_id": "ENSP00000500275.1",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 1891,
"cds_start": 5084,
"cds_end": null,
"cds_length": 5676,
"cdna_start": 5283,
"cdna_end": null,
"cdna_length": 8129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5255G>C",
"hgvs_p": "p.Gly1752Ala",
"transcript": "NM_001354240.2",
"protein_id": "NP_001341169.1",
"transcript_support_level": null,
"aa_start": 1752,
"aa_end": null,
"aa_length": 1887,
"cds_start": 5255,
"cds_end": null,
"cds_length": 5664,
"cdna_start": 5536,
"cdna_end": null,
"cdna_length": 8210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5255G>C",
"hgvs_p": "p.Gly1752Ala",
"transcript": "NM_001354241.2",
"protein_id": "NP_001341170.1",
"transcript_support_level": null,
"aa_start": 1752,
"aa_end": null,
"aa_length": 1887,
"cds_start": 5255,
"cds_end": null,
"cds_length": 5664,
"cdna_start": 5570,
"cdna_end": null,
"cdna_length": 8244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5255G>C",
"hgvs_p": "p.Gly1752Ala",
"transcript": "ENST00000672779.1",
"protein_id": "ENSP00000499869.1",
"transcript_support_level": null,
"aa_start": 1752,
"aa_end": null,
"aa_length": 1887,
"cds_start": 5255,
"cds_end": null,
"cds_length": 5664,
"cdna_start": 5308,
"cdna_end": null,
"cdna_length": 8467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5255G>C",
"hgvs_p": "p.Gly1752Ala",
"transcript": "ENST00000673240.1",
"protein_id": "ENSP00000499996.1",
"transcript_support_level": null,
"aa_start": 1752,
"aa_end": null,
"aa_length": 1887,
"cds_start": 5255,
"cds_end": null,
"cds_length": 5664,
"cdna_start": 5848,
"cdna_end": null,
"cdna_length": 9007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5252G>C",
"hgvs_p": "p.Gly1751Ala",
"transcript": "NM_001354242.2",
"protein_id": "NP_001341171.1",
"transcript_support_level": null,
"aa_start": 1751,
"aa_end": null,
"aa_length": 1886,
"cds_start": 5252,
"cds_end": null,
"cds_length": 5661,
"cdna_start": 5533,
"cdna_end": null,
"cdna_length": 8207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5147G>C",
"hgvs_p": "p.Gly1716Ala",
"transcript": "NM_001354243.2",
"protein_id": "NP_001341172.1",
"transcript_support_level": null,
"aa_start": 1716,
"aa_end": null,
"aa_length": 1882,
"cds_start": 5147,
"cds_end": null,
"cds_length": 5649,
"cdna_start": 5346,
"cdna_end": null,
"cdna_length": 8113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5147G>C",
"hgvs_p": "p.Gly1716Ala",
"transcript": "ENST00000672402.1",
"protein_id": "ENSP00000500881.1",
"transcript_support_level": null,
"aa_start": 1716,
"aa_end": null,
"aa_length": 1882,
"cds_start": 5147,
"cds_end": null,
"cds_length": 5649,
"cdna_start": 5357,
"cdna_end": null,
"cdna_length": 8594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5144G>C",
"hgvs_p": "p.Gly1715Ala",
"transcript": "NM_001354244.2",
"protein_id": "NP_001341173.1",
"transcript_support_level": null,
"aa_start": 1715,
"aa_end": null,
"aa_length": 1881,
"cds_start": 5144,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 5343,
"cdna_end": null,
"cdna_length": 8110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5054G>C",
"hgvs_p": "p.Gly1685Ala",
"transcript": "NM_001386160.1",
"protein_id": "NP_001373089.1",
"transcript_support_level": null,
"aa_start": 1685,
"aa_end": null,
"aa_length": 1881,
"cds_start": 5054,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 5253,
"cdna_end": null,
"cdna_length": 8110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5048G>C",
"hgvs_p": "p.Gly1683Ala",
"transcript": "NM_001354245.2",
"protein_id": "NP_001341174.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1879,
"cds_start": 5048,
"cds_end": null,
"cds_length": 5640,
"cdna_start": 5363,
"cdna_end": null,
"cdna_length": 8220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5048G>C",
"hgvs_p": "p.Gly1683Ala",
"transcript": "ENST00000672045.1",
"protein_id": "ENSP00000499959.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1879,
"cds_start": 5048,
"cds_end": null,
"cds_length": 5640,
"cdna_start": 5228,
"cdna_end": null,
"cdna_length": 8074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5048G>C",
"hgvs_p": "p.Gly1683Ala",
"transcript": "ENST00000672880.1",
"protein_id": "ENSP00000500866.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1879,
"cds_start": 5048,
"cds_end": null,
"cds_length": 5640,
"cdna_start": 5247,
"cdna_end": null,
"cdna_length": 8093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5036G>C",
"hgvs_p": "p.Gly1679Ala",
"transcript": "NM_001386147.1",
"protein_id": "NP_001373076.1",
"transcript_support_level": null,
"aa_start": 1679,
"aa_end": null,
"aa_length": 1875,
"cds_start": 5036,
"cds_end": null,
"cds_length": 5628,
"cdna_start": 5235,
"cdna_end": null,
"cdna_length": 8092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5210G>C",
"hgvs_p": "p.Gly1737Ala",
"transcript": "NM_020977.5",
"protein_id": "NP_066187.2",
"transcript_support_level": null,
"aa_start": 1737,
"aa_end": null,
"aa_length": 1872,
"cds_start": 5210,
"cds_end": null,
"cds_length": 5619,
"cdna_start": 5286,
"cdna_end": null,
"cdna_length": 7960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5048G>C",
"hgvs_p": "p.Gly1683Ala",
"transcript": "ENST00000673255.1",
"protein_id": "ENSP00000500423.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1872,
"cds_start": 5048,
"cds_end": null,
"cds_length": 5619,
"cdna_start": 5247,
"cdna_end": null,
"cdna_length": 8123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5207G>C",
"hgvs_p": "p.Gly1736Ala",
"transcript": "NM_001354246.2",
"protein_id": "NP_001341175.1",
"transcript_support_level": null,
"aa_start": 1736,
"aa_end": null,
"aa_length": 1871,
"cds_start": 5207,
"cds_end": null,
"cds_length": 5616,
"cdna_start": 5522,
"cdna_end": null,
"cdna_length": 8196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5024G>C",
"hgvs_p": "p.Gly1675Ala",
"transcript": "NM_001354249.2",
"protein_id": "NP_001341178.1",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1871,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5616,
"cdna_start": 5223,
"cdna_end": null,
"cdna_length": 8080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5024G>C",
"hgvs_p": "p.Gly1675Ala",
"transcript": "ENST00000672088.1",
"protein_id": "ENSP00000499837.1",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1871,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5616,
"cdna_start": 5234,
"cdna_end": null,
"cdna_length": 8080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5195G>C",
"hgvs_p": "p.Gly1732Ala",
"transcript": "NM_001386148.2",
"protein_id": "NP_001373077.1",
"transcript_support_level": null,
"aa_start": 1732,
"aa_end": null,
"aa_length": 1867,
"cds_start": 5195,
"cds_end": null,
"cds_length": 5604,
"cdna_start": 5719,
"cdna_end": null,
"cdna_length": 8393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5183G>C",
"hgvs_p": "p.Gly1728Ala",
"transcript": "NM_001127493.3",
"protein_id": "NP_001120965.1",
"transcript_support_level": null,
"aa_start": 1728,
"aa_end": null,
"aa_length": 1863,
"cds_start": 5183,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 5382,
"cdna_end": null,
"cdna_length": 8056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5180G>C",
"hgvs_p": "p.Gly1727Ala",
"transcript": "NM_001354252.2",
"protein_id": "NP_001341181.1",
"transcript_support_level": null,
"aa_start": 1727,
"aa_end": null,
"aa_length": 1862,
"cds_start": 5180,
"cds_end": null,
"cds_length": 5589,
"cdna_start": 5379,
"cdna_end": null,
"cdna_length": 8053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4991G>C",
"hgvs_p": "p.Gly1664Ala",
"transcript": "NM_001386149.1",
"protein_id": "NP_001373078.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1860,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 5190,
"cdna_end": null,
"cdna_length": 8047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4985G>C",
"hgvs_p": "p.Gly1662Ala",
"transcript": "NM_001354253.2",
"protein_id": "NP_001341182.1",
"transcript_support_level": null,
"aa_start": 1662,
"aa_end": null,
"aa_length": 1858,
"cds_start": 4985,
"cds_end": null,
"cds_length": 5577,
"cdna_start": 5184,
"cdna_end": null,
"cdna_length": 8041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4985G>C",
"hgvs_p": "p.Gly1662Ala",
"transcript": "ENST00000672350.1",
"protein_id": "ENSP00000500420.1",
"transcript_support_level": null,
"aa_start": 1662,
"aa_end": null,
"aa_length": 1858,
"cds_start": 4985,
"cds_end": null,
"cds_length": 5577,
"cdna_start": 5185,
"cdna_end": null,
"cdna_length": 8031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5159G>C",
"hgvs_p": "p.Gly1720Ala",
"transcript": "NM_001354254.2",
"protein_id": "NP_001341183.1",
"transcript_support_level": null,
"aa_start": 1720,
"aa_end": null,
"aa_length": 1855,
"cds_start": 5159,
"cds_end": null,
"cds_length": 5568,
"cdna_start": 5358,
"cdna_end": null,
"cdna_length": 8032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5147G>C",
"hgvs_p": "p.Gly1716Ala",
"transcript": "NM_001354255.2",
"protein_id": "NP_001341184.1",
"transcript_support_level": null,
"aa_start": 1716,
"aa_end": null,
"aa_length": 1851,
"cds_start": 5147,
"cds_end": null,
"cds_length": 5556,
"cdna_start": 5346,
"cdna_end": null,
"cdna_length": 8020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5147G>C",
"hgvs_p": "p.Gly1716Ala",
"transcript": "ENST00000671825.1",
"protein_id": "ENSP00000500459.1",
"transcript_support_level": null,
"aa_start": 1716,
"aa_end": null,
"aa_length": 1851,
"cds_start": 5147,
"cds_end": null,
"cds_length": 5556,
"cdna_start": 5357,
"cdna_end": null,
"cdna_length": 8516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5144G>C",
"hgvs_p": "p.Gly1715Ala",
"transcript": "NM_001354256.2",
"protein_id": "NP_001341185.1",
"transcript_support_level": null,
"aa_start": 1715,
"aa_end": null,
"aa_length": 1850,
"cds_start": 5144,
"cds_end": null,
"cds_length": 5553,
"cdna_start": 5343,
"cdna_end": null,
"cdna_length": 8017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5144G>C",
"hgvs_p": "p.Gly1715Ala",
"transcript": "NM_001386161.1",
"protein_id": "NP_001373090.1",
"transcript_support_level": null,
"aa_start": 1715,
"aa_end": null,
"aa_length": 1850,
"cds_start": 5144,
"cds_end": null,
"cds_length": 5553,
"cdna_start": 5235,
"cdna_end": null,
"cdna_length": 7909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5048G>C",
"hgvs_p": "p.Gly1683Ala",
"transcript": "ENST00000672793.1",
"protein_id": "ENSP00000500150.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1849,
"cds_start": 5048,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 5247,
"cdna_end": null,
"cdna_length": 8484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4949G>C",
"hgvs_p": "p.Gly1650Ala",
"transcript": "NM_001354257.2",
"protein_id": "NP_001341186.1",
"transcript_support_level": null,
"aa_start": 1650,
"aa_end": null,
"aa_length": 1846,
"cds_start": 4949,
"cds_end": null,
"cds_length": 5541,
"cdna_start": 5148,
"cdna_end": null,
"cdna_length": 8005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4949G>C",
"hgvs_p": "p.Gly1650Ala",
"transcript": "ENST00000671854.1",
"protein_id": "ENSP00000500833.1",
"transcript_support_level": null,
"aa_start": 1650,
"aa_end": null,
"aa_length": 1846,
"cds_start": 4949,
"cds_end": null,
"cds_length": 5541,
"cdna_start": 5149,
"cdna_end": null,
"cdna_length": 7995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5111G>C",
"hgvs_p": "p.Gly1704Ala",
"transcript": "NM_001354258.2",
"protein_id": "NP_001341187.1",
"transcript_support_level": null,
"aa_start": 1704,
"aa_end": null,
"aa_length": 1839,
"cds_start": 5111,
"cds_end": null,
"cds_length": 5520,
"cdna_start": 5426,
"cdna_end": null,
"cdna_length": 8100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5111G>C",
"hgvs_p": "p.Gly1704Ala",
"transcript": "ENST00000672366.1",
"protein_id": "ENSP00000500937.1",
"transcript_support_level": null,
"aa_start": 1704,
"aa_end": null,
"aa_length": 1839,
"cds_start": 5111,
"cds_end": null,
"cds_length": 5520,
"cdna_start": 5318,
"cdna_end": null,
"cdna_length": 8477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4925G>C",
"hgvs_p": "p.Gly1642Ala",
"transcript": "NM_001354260.2",
"protein_id": "NP_001341189.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1838,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5517,
"cdna_start": 5124,
"cdna_end": null,
"cdna_length": 7981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4925G>C",
"hgvs_p": "p.Gly1642Ala",
"transcript": "ENST00000672356.1",
"protein_id": "ENSP00000500544.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1838,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5517,
"cdna_start": 5197,
"cdna_end": null,
"cdna_length": 8043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4991G>C",
"hgvs_p": "p.Gly1664Ala",
"transcript": "NM_001386150.1",
"protein_id": "NP_001373079.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1830,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5493,
"cdna_start": 5190,
"cdna_end": null,
"cdna_length": 7957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5084G>C",
"hgvs_p": "p.Gly1695Ala",
"transcript": "ENST00000672965.1",
"protein_id": "ENSP00000499891.1",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 1830,
"cds_start": 5084,
"cds_end": null,
"cds_length": 5493,
"cdna_start": 5283,
"cdna_end": null,
"cdna_length": 8442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5075G>C",
"hgvs_p": "p.Gly1692Ala",
"transcript": "NM_001386187.2",
"protein_id": "NP_001373116.1",
"transcript_support_level": null,
"aa_start": 1692,
"aa_end": null,
"aa_length": 1827,
"cds_start": 5075,
"cds_end": null,
"cds_length": 5484,
"cdna_start": 5599,
"cdna_end": null,
"cdna_length": 8273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5147G>C",
"hgvs_p": "p.Gly1716Ala",
"transcript": "ENST00000672696.1",
"protein_id": "ENSP00000499828.1",
"transcript_support_level": null,
"aa_start": 1716,
"aa_end": null,
"aa_length": 1827,
"cds_start": 5147,
"cds_end": null,
"cds_length": 5484,
"cdna_start": 5357,
"cdna_end": null,
"cdna_length": 7947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5069G>C",
"hgvs_p": "p.Gly1690Ala",
"transcript": "NM_001354261.2",
"protein_id": "NP_001341190.1",
"transcript_support_level": null,
"aa_start": 1690,
"aa_end": null,
"aa_length": 1825,
"cds_start": 5069,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 5257,
"cdna_end": null,
"cdna_length": 7931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5060G>C",
"hgvs_p": "p.Gly1687Ala",
"transcript": "ENST00000672177.1",
"protein_id": "ENSP00000500918.1",
"transcript_support_level": null,
"aa_start": 1687,
"aa_end": null,
"aa_length": 1822,
"cds_start": 5060,
"cds_end": null,
"cds_length": 5469,
"cdna_start": 5259,
"cdna_end": null,
"cdna_length": 8418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5048G>C",
"hgvs_p": "p.Gly1683Ala",
"transcript": "NM_001354262.2",
"protein_id": "NP_001341191.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1818,
"cds_start": 5048,
"cds_end": null,
"cds_length": 5457,
"cdna_start": 5247,
"cdna_end": null,
"cdna_length": 7921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5048G>C",
"hgvs_p": "p.Gly1683Ala",
"transcript": "ENST00000672312.1",
"protein_id": "ENSP00000500378.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1818,
"cds_start": 5048,
"cds_end": null,
"cds_length": 5457,
"cdna_start": 5258,
"cdna_end": null,
"cdna_length": 8417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5045G>C",
"hgvs_p": "p.Gly1682Ala",
"transcript": "NM_001354264.2",
"protein_id": "NP_001341193.1",
"transcript_support_level": null,
"aa_start": 1682,
"aa_end": null,
"aa_length": 1817,
"cds_start": 5045,
"cds_end": null,
"cds_length": 5454,
"cdna_start": 5233,
"cdna_end": null,
"cdna_length": 7907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5045G>C",
"hgvs_p": "p.Gly1682Ala",
"transcript": "ENST00000672221.1",
"protein_id": "ENSP00000500473.1",
"transcript_support_level": null,
"aa_start": 1682,
"aa_end": null,
"aa_length": 1817,
"cds_start": 5045,
"cds_end": null,
"cds_length": 5454,
"cdna_start": 5155,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5207G>C",
"hgvs_p": "p.Gly1736Ala",
"transcript": "NM_001354265.2",
"protein_id": "NP_001341194.1",
"transcript_support_level": null,
"aa_start": 1736,
"aa_end": null,
"aa_length": 1816,
"cds_start": 5207,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 5522,
"cdna_end": null,
"cdna_length": 8031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5024G>C",
"hgvs_p": "p.Gly1675Ala",
"transcript": "NM_001354266.2",
"protein_id": "NP_001341195.1",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1810,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5433,
"cdna_start": 5223,
"cdna_end": null,
"cdna_length": 7897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5024G>C",
"hgvs_p": "p.Gly1675Ala",
"transcript": "NM_001354267.2",
"protein_id": "NP_001341196.1",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1810,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5433,
"cdna_start": 5212,
"cdna_end": null,
"cdna_length": 7886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5024G>C",
"hgvs_p": "p.Gly1675Ala",
"transcript": "ENST00000671704.1",
"protein_id": "ENSP00000500926.1",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1810,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5433,
"cdna_start": 5179,
"cdna_end": null,
"cdna_length": 8338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5024G>C",
"hgvs_p": "p.Gly1675Ala",
"transcript": "ENST00000672955.1",
"protein_id": "ENSP00000500527.1",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1810,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5433,
"cdna_start": 5275,
"cdna_end": null,
"cdna_length": 8434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4925G>C",
"hgvs_p": "p.Gly1642Ala",
"transcript": "NM_001386151.1",
"protein_id": "NP_001373080.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1808,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5427,
"cdna_start": 5124,
"cdna_end": null,
"cdna_length": 7891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5267G>C",
"hgvs_p": "p.Gly1756Ala",
"transcript": "NM_001386152.1",
"protein_id": "NP_001373081.1",
"transcript_support_level": null,
"aa_start": 1756,
"aa_end": null,
"aa_length": 1808,
"cds_start": 5267,
"cds_end": null,
"cds_length": 5427,
"cdna_start": 5548,
"cdna_end": null,
"cdna_length": 7973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5012G>C",
"hgvs_p": "p.Gly1671Ala",
"transcript": "NM_001354268.2",
"protein_id": "NP_001341197.1",
"transcript_support_level": null,
"aa_start": 1671,
"aa_end": null,
"aa_length": 1806,
"cds_start": 5012,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 5327,
"cdna_end": null,
"cdna_length": 8001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5012G>C",
"hgvs_p": "p.Gly1671Ala",
"transcript": "ENST00000672854.1",
"protein_id": "ENSP00000500311.1",
"transcript_support_level": null,
"aa_start": 1671,
"aa_end": null,
"aa_length": 1806,
"cds_start": 5012,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 5192,
"cdna_end": null,
"cdna_length": 8351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4997G>C",
"hgvs_p": "p.Gly1666Ala",
"transcript": "NM_001354269.3",
"protein_id": "NP_001341198.1",
"transcript_support_level": null,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1801,
"cds_start": 4997,
"cds_end": null,
"cds_length": 5406,
"cdna_start": 5521,
"cdna_end": null,
"cdna_length": 8195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4991G>C",
"hgvs_p": "p.Gly1664Ala",
"transcript": "NM_001386153.1",
"protein_id": "NP_001373082.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1799,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5400,
"cdna_start": 5190,
"cdna_end": null,
"cdna_length": 7864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4985G>C",
"hgvs_p": "p.Gly1662Ala",
"transcript": "NM_001354270.2",
"protein_id": "NP_001341199.1",
"transcript_support_level": null,
"aa_start": 1662,
"aa_end": null,
"aa_length": 1797,
"cds_start": 4985,
"cds_end": null,
"cds_length": 5394,
"cdna_start": 5184,
"cdna_end": null,
"cdna_length": 7858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4985G>C",
"hgvs_p": "p.Gly1662Ala",
"transcript": "ENST00000673546.1",
"protein_id": "ENSP00000500843.1",
"transcript_support_level": null,
"aa_start": 1662,
"aa_end": null,
"aa_length": 1797,
"cds_start": 4985,
"cds_end": null,
"cds_length": 5394,
"cdna_start": 5185,
"cdna_end": null,
"cdna_length": 8344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4976G>C",
"hgvs_p": "p.Gly1659Ala",
"transcript": "NM_001386154.1",
"protein_id": "NP_001373083.1",
"transcript_support_level": null,
"aa_start": 1659,
"aa_end": null,
"aa_length": 1794,
"cds_start": 4976,
"cds_end": null,
"cds_length": 5385,
"cdna_start": 5175,
"cdna_end": null,
"cdna_length": 7849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4949G>C",
"hgvs_p": "p.Gly1650Ala",
"transcript": "NM_001386156.1",
"protein_id": "NP_001373085.1",
"transcript_support_level": null,
"aa_start": 1650,
"aa_end": null,
"aa_length": 1785,
"cds_start": 4949,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 5137,
"cdna_end": null,
"cdna_length": 7811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4949G>C",
"hgvs_p": "p.Gly1650Ala",
"transcript": "ENST00000672684.1",
"protein_id": "ENSP00000499943.1",
"transcript_support_level": null,
"aa_start": 1650,
"aa_end": null,
"aa_length": 1785,
"cds_start": 4949,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 5149,
"cdna_end": null,
"cdna_length": 8308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4925G>C",
"hgvs_p": "p.Gly1642Ala",
"transcript": "NM_001354271.2",
"protein_id": "NP_001341200.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1777,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5334,
"cdna_start": 5113,
"cdna_end": null,
"cdna_length": 7787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4925G>C",
"hgvs_p": "p.Gly1642Ala",
"transcript": "ENST00000671951.1",
"protein_id": "ENSP00000500528.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1777,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5334,
"cdna_start": 5157,
"cdna_end": null,
"cdna_length": 8316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4925G>C",
"hgvs_p": "p.Gly1642Ala",
"transcript": "ENST00000672759.1",
"protein_id": "ENSP00000499881.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1777,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5334,
"cdna_start": 5124,
"cdna_end": null,
"cdna_length": 8283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5081G>C",
"hgvs_p": "p.Gly1694Ala",
"transcript": "NM_001354272.2",
"protein_id": "NP_001341201.1",
"transcript_support_level": null,
"aa_start": 1694,
"aa_end": null,
"aa_length": 1774,
"cds_start": 5081,
"cds_end": null,
"cds_length": 5325,
"cdna_start": 5280,
"cdna_end": null,
"cdna_length": 7789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4910G>C",
"hgvs_p": "p.Gly1637Ala",
"transcript": "NM_001354273.2",
"protein_id": "NP_001341202.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 1772,
"cds_start": 4910,
"cds_end": null,
"cds_length": 5319,
"cdna_start": 5225,
"cdna_end": null,
"cdna_length": 7899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4976G>C",
"hgvs_p": "p.Gly1659Ala",
"transcript": "NM_001354274.2",
"protein_id": "NP_001341203.1",
"transcript_support_level": null,
"aa_start": 1659,
"aa_end": null,
"aa_length": 1770,
"cds_start": 4976,
"cds_end": null,
"cds_length": 5313,
"cdna_start": 5175,
"cdna_end": null,
"cdna_length": 7777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4976G>C",
"hgvs_p": "p.Gly1659Ala",
"transcript": "ENST00000673453.1",
"protein_id": "ENSP00000500112.1",
"transcript_support_level": null,
"aa_start": 1659,
"aa_end": null,
"aa_length": 1770,
"cds_start": 4976,
"cds_end": null,
"cds_length": 5313,
"cdna_start": 5175,
"cdna_end": null,
"cdna_length": 7765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5147G>C",
"hgvs_p": "p.Gly1716Ala",
"transcript": "ENST00000672315.1",
"protein_id": "ENSP00000500780.1",
"transcript_support_level": null,
"aa_start": 1716,
"aa_end": null,
"aa_length": 1768,
"cds_start": 5147,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 5357,
"cdna_end": null,
"cdna_length": 7770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5147G>C",
"hgvs_p": "p.Gly1716Ala",
"transcript": "ENST00000673044.1",
"protein_id": "ENSP00000500933.1",
"transcript_support_level": null,
"aa_start": 1716,
"aa_end": null,
"aa_length": 1768,
"cds_start": 5147,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 5357,
"cdna_end": null,
"cdna_length": 7770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5048G>C",
"hgvs_p": "p.Gly1683Ala",
"transcript": "NM_001354275.2",
"protein_id": "NP_001341204.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1763,
"cds_start": 5048,
"cds_end": null,
"cds_length": 5292,
"cdna_start": 5247,
"cdna_end": null,
"cdna_length": 7756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5048G>C",
"hgvs_p": "p.Gly1683Ala",
"transcript": "ENST00000671756.1",
"protein_id": "ENSP00000500712.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1763,
"cds_start": 5048,
"cds_end": null,
"cds_length": 5292,
"cdna_start": 5247,
"cdna_end": null,
"cdna_length": 8241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5033G>C",
"hgvs_p": "p.Gly1678Ala",
"transcript": "ENST00000672246.1",
"protein_id": "ENSP00000499990.1",
"transcript_support_level": null,
"aa_start": 1678,
"aa_end": null,
"aa_length": 1758,
"cds_start": 5033,
"cds_end": null,
"cds_length": 5277,
"cdna_start": 5232,
"cdna_end": null,
"cdna_length": 7729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5024G>C",
"hgvs_p": "p.Gly1675Ala",
"transcript": "NM_001354276.2",
"protein_id": "NP_001341205.1",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5223,
"cdna_end": null,
"cdna_length": 7732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5024G>C",
"hgvs_p": "p.Gly1675Ala",
"transcript": "NM_001386162.1",
"protein_id": "NP_001373091.1",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5212,
"cdna_end": null,
"cdna_length": 7721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5024G>C",
"hgvs_p": "p.Gly1675Ala",
"transcript": "ENST00000672731.1",
"protein_id": "ENSP00000500908.1",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5224,
"cdna_end": null,
"cdna_length": 7721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4826G>C",
"hgvs_p": "p.Gly1609Ala",
"transcript": "NM_001386157.1",
"protein_id": "NP_001373086.1",
"transcript_support_level": null,
"aa_start": 1609,
"aa_end": null,
"aa_length": 1744,
"cds_start": 4826,
"cds_end": null,
"cds_length": 5235,
"cdna_start": 5025,
"cdna_end": null,
"cdna_length": 7699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4628G>C",
"hgvs_p": "p.Gly1543Ala",
"transcript": "ENST00000672986.1",
"protein_id": "ENSP00000499967.1",
"transcript_support_level": null,
"aa_start": 1543,
"aa_end": null,
"aa_length": 1739,
"cds_start": 4628,
"cds_end": null,
"cds_length": 5220,
"cdna_start": 4774,
"cdna_end": null,
"cdna_length": 7620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4727G>C",
"hgvs_p": "p.Gly1576Ala",
"transcript": "NM_001386158.1",
"protein_id": "NP_001373087.1",
"transcript_support_level": null,
"aa_start": 1576,
"aa_end": null,
"aa_length": 1711,
"cds_start": 4727,
"cds_end": null,
"cds_length": 5136,
"cdna_start": 4915,
"cdna_end": null,
"cdna_length": 7589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4718G>C",
"hgvs_p": "p.Gly1573Ala",
"transcript": "ENST00000673536.1",
"protein_id": "ENSP00000500524.1",
"transcript_support_level": null,
"aa_start": 1573,
"aa_end": null,
"aa_length": 1708,
"cds_start": 4718,
"cds_end": null,
"cds_length": 5127,
"cdna_start": 5366,
"cdna_end": null,
"cdna_length": 8525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4826G>C",
"hgvs_p": "p.Gly1609Ala",
"transcript": "NM_001354277.2",
"protein_id": "NP_001341206.1",
"transcript_support_level": null,
"aa_start": 1609,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4826,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 5025,
"cdna_end": null,
"cdna_length": 7534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4826G>C",
"hgvs_p": "p.Gly1609Ala",
"transcript": "ENST00000671893.1",
"protein_id": "ENSP00000499986.1",
"transcript_support_level": null,
"aa_start": 1609,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4826,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 5025,
"cdna_end": null,
"cdna_length": 7522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2738G>C",
"hgvs_p": "p.Gly913Ala",
"transcript": "NM_001354278.2",
"protein_id": "NP_001341207.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1109,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 3048,
"cdna_end": null,
"cdna_length": 5905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2738G>C",
"hgvs_p": "p.Gly913Ala",
"transcript": "ENST00000673353.1",
"protein_id": "ENSP00000500007.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1109,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 3110,
"cdna_end": null,
"cdna_length": 5956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2597G>C",
"hgvs_p": "p.Gly866Ala",
"transcript": "ENST00000505342.6",
"protein_id": "ENSP00000422498.2",
"transcript_support_level": 5,
"aa_start": 866,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2597,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 5732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2774G>C",
"hgvs_p": "p.Gly925Ala",
"transcript": "NM_001354279.2",
"protein_id": "NP_001341208.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2774,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 3084,
"cdna_end": null,
"cdna_length": 5758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2774G>C",
"hgvs_p": "p.Gly925Ala",
"transcript": "ENST00000673231.1",
"protein_id": "ENSP00000500111.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2774,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 3211,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2759G>C",
"hgvs_p": "p.Gly920Ala",
"transcript": "NM_001354280.2",
"protein_id": "NP_001341209.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2759,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 3069,
"cdna_end": null,
"cdna_length": 5743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2759G>C",
"hgvs_p": "p.Gly920Ala",
"transcript": "ENST00000673048.1",
"protein_id": "ENSP00000500832.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2759,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 2903,
"cdna_end": null,
"cdna_length": 6062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2738G>C",
"hgvs_p": "p.Gly913Ala",
"transcript": "NM_001354281.2",
"protein_id": "NP_001341210.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1048,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3147,
"cdna_start": 3048,
"cdna_end": null,
"cdna_length": 5722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2738G>C",
"hgvs_p": "p.Gly913Ala",
"transcript": "ENST00000509550.5",
"protein_id": "ENSP00000426944.1",
"transcript_support_level": 2,
"aa_start": 913,
"aa_end": null,
"aa_length": 1048,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3147,
"cdna_start": 3053,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2774G>C",
"hgvs_p": "p.Gly925Ala",
"transcript": "NM_001354282.2",
"protein_id": "NP_001341211.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2774,
"cds_end": null,
"cds_length": 3018,
"cdna_start": 3084,
"cdna_end": null,
"cdna_length": 5593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2774G>C",
"hgvs_p": "p.Gly925Ala",
"transcript": "ENST00000672411.1",
"protein_id": "ENSP00000499979.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2774,
"cds_end": null,
"cds_length": 3018,
"cdna_start": 3233,
"cdna_end": null,
"cdna_length": 5730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2597G>C",
"hgvs_p": "p.Gly866Ala",
"transcript": "ENST00000672915.1",
"protein_id": "ENSP00000500622.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2597,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 6045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2390G>C",
"hgvs_p": "p.Gly797Ala",
"transcript": "ENST00000612754.2",
"protein_id": "ENSP00000482888.2",
"transcript_support_level": 5,
"aa_start": 797,
"aa_end": null,
"aa_length": 938,
"cds_start": 2390,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2390,
"cdna_end": null,
"cdna_length": 4810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.1610G>C",
"hgvs_p": "p.Gly537Ala",
"transcript": "NM_001386167.1",
"protein_id": "NP_001373096.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 764,
"cds_start": 1610,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 4663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.*703G>C",
"hgvs_p": null,
"transcript": "ENST00000671863.1",
"protein_id": "ENSP00000500855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.*703G>C",
"hgvs_p": null,
"transcript": "ENST00000673538.1",
"protein_id": "ENSP00000500842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.2847G>C",
"hgvs_p": null,
"transcript": "ENST00000681990.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.2055G>C",
"hgvs_p": null,
"transcript": "ENST00000682049.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.2799G>C",
"hgvs_p": null,
"transcript": "ENST00000682959.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.1628G>C",
"hgvs_p": null,
"transcript": "ENST00000683389.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.3590G>C",
"hgvs_p": null,
"transcript": "ENST00000683826.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.1571G>C",
"hgvs_p": null,
"transcript": "ENST00000683893.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.1964G>C",
"hgvs_p": null,
"transcript": "ENST00000683908.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.8310G>C",
"hgvs_p": null,
"transcript": "ENST00000683972.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.2936G>C",
"hgvs_p": null,
"transcript": "ENST00000684225.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.920G>C",
"hgvs_p": null,
"transcript": "ENST00000684378.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.3354G>C",
"hgvs_p": null,
"transcript": "ENST00000684470.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.1569G>C",
"hgvs_p": null,
"transcript": "ENST00000684730.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.*703G>C",
"hgvs_p": null,
"transcript": "ENST00000671863.1",
"protein_id": "ENSP00000500855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.*703G>C",
"hgvs_p": null,
"transcript": "ENST00000673538.1",
"protein_id": "ENSP00000500842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.-42G>C",
"hgvs_p": null,
"transcript": "ENST00000684230.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"dbsnp": "rs79577190",
"frequency_reference_population": 0.00041200093,
"hom_count_reference_population": 4,
"allele_count_reference_population": 665,
"gnomad_exomes_af": 0.000242159,
"gnomad_genomes_af": 0.00204307,
"gnomad_exomes_ac": 354,
"gnomad_genomes_ac": 311,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0049439966678619385,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.136,
"revel_prediction": "Benign",
"alphamissense_score": 0.0943,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.542,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000357077.9",
"gene_symbol": "ANK2",
"hgnc_id": 493,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.11465G>C",
"hgvs_p": "p.Gly3822Ala"
}
],
"clinvar_disease": " ankyrin-B-related,Cardiac arrhythmia,Cardiovascular phenotype,Long QT syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:3",
"phenotype_combined": "not specified|Cardiac arrhythmia, ankyrin-B-related|not provided|Long QT syndrome|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}