← 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: 4-113365051-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=113365051&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 113365051,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000357077.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"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.10901T>G",
"hgvs_p": "p.Val3634Gly",
"transcript": "NM_001148.6",
"protein_id": "NP_001139.3",
"transcript_support_level": null,
"aa_start": 3634,
"aa_end": null,
"aa_length": 3957,
"cds_start": 10901,
"cds_end": null,
"cds_length": 11874,
"cdna_start": 10977,
"cdna_end": null,
"cdna_length": 14215,
"mane_select": "ENST00000357077.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"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.10901T>G",
"hgvs_p": "p.Val3634Gly",
"transcript": "ENST00000357077.9",
"protein_id": "ENSP00000349588.4",
"transcript_support_level": 1,
"aa_start": 3634,
"aa_end": null,
"aa_length": 3957,
"cds_start": 10901,
"cds_end": null,
"cds_length": 11874,
"cdna_start": 10977,
"cdna_end": null,
"cdna_length": 14215,
"mane_select": "NM_001148.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11042T>G",
"hgvs_p": "p.Val3681Gly",
"transcript": "ENST00000506344.6",
"protein_id": "ENSP00000422888.2",
"transcript_support_level": 1,
"aa_start": 3681,
"aa_end": null,
"aa_length": 4183,
"cds_start": 11042,
"cds_end": null,
"cds_length": 12552,
"cdna_start": 11292,
"cdna_end": null,
"cdna_length": 14898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4646T>G",
"hgvs_p": "p.Val1549Gly",
"transcript": "ENST00000394537.7",
"protein_id": "ENSP00000378044.3",
"transcript_support_level": 1,
"aa_start": 1549,
"aa_end": null,
"aa_length": 1872,
"cds_start": 4646,
"cds_end": null,
"cds_length": 5619,
"cdna_start": 4699,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4619T>G",
"hgvs_p": "p.Val1540Gly",
"transcript": "ENST00000506722.5",
"protein_id": "ENSP00000421067.1",
"transcript_support_level": 1,
"aa_start": 1540,
"aa_end": null,
"aa_length": 1863,
"cds_start": 4619,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 4814,
"cdna_end": null,
"cdna_length": 8051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.1649T>G",
"hgvs_p": "p.Val550Gly",
"transcript": "ENST00000514960.5",
"protein_id": "ENSP00000422853.1",
"transcript_support_level": 1,
"aa_start": 550,
"aa_end": null,
"aa_length": 965,
"cds_start": 1649,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 5160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.1328T>G",
"hgvs_p": "p.Val443Gly",
"transcript": "ENST00000510275.8",
"protein_id": "ENSP00000421023.4",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 683,
"cds_start": 1328,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11042T>G",
"hgvs_p": "p.Val3681Gly",
"transcript": "NM_001386174.1",
"protein_id": "NP_001373103.1",
"transcript_support_level": null,
"aa_start": 3681,
"aa_end": null,
"aa_length": 4183,
"cds_start": 11042,
"cds_end": null,
"cds_length": 12552,
"cdna_start": 11292,
"cdna_end": null,
"cdna_length": 14898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11018T>G",
"hgvs_p": "p.Val3673Gly",
"transcript": "NM_001386175.1",
"protein_id": "NP_001373104.1",
"transcript_support_level": null,
"aa_start": 3673,
"aa_end": null,
"aa_length": 4175,
"cds_start": 11018,
"cds_end": null,
"cds_length": 12528,
"cdna_start": 11268,
"cdna_end": null,
"cdna_length": 14874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10739T>G",
"hgvs_p": "p.Val3580Gly",
"transcript": "ENST00000672209.1",
"protein_id": "ENSP00000499982.1",
"transcript_support_level": null,
"aa_start": 3580,
"aa_end": null,
"aa_length": 3995,
"cds_start": 10739,
"cds_end": null,
"cds_length": 11988,
"cdna_start": 10938,
"cdna_end": null,
"cdna_length": 14932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.10982T>G",
"hgvs_p": "p.Val3661Gly",
"transcript": "ENST00000672240.1",
"protein_id": "ENSP00000500548.1",
"transcript_support_level": null,
"aa_start": 3661,
"aa_end": null,
"aa_length": 3984,
"cds_start": 10982,
"cds_end": null,
"cds_length": 11955,
"cdna_start": 11575,
"cdna_end": null,
"cdna_length": 15298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.10946T>G",
"hgvs_p": "p.Val3649Gly",
"transcript": "ENST00000671971.1",
"protein_id": "ENSP00000499832.1",
"transcript_support_level": null,
"aa_start": 3649,
"aa_end": null,
"aa_length": 3972,
"cds_start": 10946,
"cds_end": null,
"cds_length": 11919,
"cdna_start": 11539,
"cdna_end": null,
"cdna_length": 15262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10739T>G",
"hgvs_p": "p.Val3580Gly",
"transcript": "ENST00000673298.1",
"protein_id": "ENSP00000500245.1",
"transcript_support_level": null,
"aa_start": 3580,
"aa_end": null,
"aa_length": 3964,
"cds_start": 10739,
"cds_end": null,
"cds_length": 11895,
"cdna_start": 10938,
"cdna_end": null,
"cdna_length": 14363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.10739T>G",
"hgvs_p": "p.Val3580Gly",
"transcript": "ENST00000503423.6",
"protein_id": "ENSP00000421011.2",
"transcript_support_level": 5,
"aa_start": 3580,
"aa_end": null,
"aa_length": 3961,
"cds_start": 10739,
"cds_end": null,
"cds_length": 11886,
"cdna_start": 10938,
"cdna_end": null,
"cdna_length": 12641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10667T>G",
"hgvs_p": "p.Val3556Gly",
"transcript": "NM_001386142.1",
"protein_id": "NP_001373071.1",
"transcript_support_level": null,
"aa_start": 3556,
"aa_end": null,
"aa_length": 3940,
"cds_start": 10667,
"cds_end": null,
"cds_length": 11823,
"cdna_start": 10866,
"cdna_end": null,
"cdna_length": 14287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.10847T>G",
"hgvs_p": "p.Val3616Gly",
"transcript": "ENST00000673363.1",
"protein_id": "ENSP00000500539.1",
"transcript_support_level": null,
"aa_start": 3616,
"aa_end": null,
"aa_length": 3939,
"cds_start": 10847,
"cds_end": null,
"cds_length": 11820,
"cdna_start": 11440,
"cdna_end": null,
"cdna_length": 15163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.10838T>G",
"hgvs_p": "p.Val3613Gly",
"transcript": "ENST00000672830.1",
"protein_id": "ENSP00000500222.1",
"transcript_support_level": null,
"aa_start": 3613,
"aa_end": null,
"aa_length": 3936,
"cds_start": 10838,
"cds_end": null,
"cds_length": 11811,
"cdna_start": 11048,
"cdna_end": null,
"cdna_length": 14771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10739T>G",
"hgvs_p": "p.Val3580Gly",
"transcript": "ENST00000672068.1",
"protein_id": "ENSP00000499902.1",
"transcript_support_level": null,
"aa_start": 3580,
"aa_end": null,
"aa_length": 3934,
"cds_start": 10739,
"cds_end": null,
"cds_length": 11805,
"cdna_start": 10938,
"cdna_end": null,
"cdna_length": 14485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.10802T>G",
"hgvs_p": "p.Val3601Gly",
"transcript": "ENST00000264366.10",
"protein_id": "ENSP00000264366.6",
"transcript_support_level": 5,
"aa_start": 3601,
"aa_end": null,
"aa_length": 3924,
"cds_start": 10802,
"cds_end": null,
"cds_length": 11775,
"cdna_start": 10802,
"cdna_end": null,
"cdna_length": 11775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.10802T>G",
"hgvs_p": "p.Val3601Gly",
"transcript": "ENST00000672502.1",
"protein_id": "ENSP00000499870.1",
"transcript_support_level": null,
"aa_start": 3601,
"aa_end": null,
"aa_length": 3924,
"cds_start": 10802,
"cds_end": null,
"cds_length": 11775,
"cdna_start": 11009,
"cdna_end": null,
"cdna_length": 14732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.10775T>G",
"hgvs_p": "p.Val3592Gly",
"transcript": "ENST00000671809.1",
"protein_id": "ENSP00000500872.1",
"transcript_support_level": null,
"aa_start": 3592,
"aa_end": null,
"aa_length": 3915,
"cds_start": 10775,
"cds_end": null,
"cds_length": 11748,
"cdna_start": 10974,
"cdna_end": null,
"cdna_length": 14697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.10739T>G",
"hgvs_p": "p.Val3580Gly",
"transcript": "ENST00000672090.1",
"protein_id": "ENSP00000500540.1",
"transcript_support_level": null,
"aa_start": 3580,
"aa_end": null,
"aa_length": 3903,
"cds_start": 10739,
"cds_end": null,
"cds_length": 11712,
"cdna_start": 10938,
"cdna_end": null,
"cdna_length": 14661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.10715T>G",
"hgvs_p": "p.Val3572Gly",
"transcript": "ENST00000671906.1",
"protein_id": "ENSP00000499953.1",
"transcript_support_level": null,
"aa_start": 3572,
"aa_end": null,
"aa_length": 3895,
"cds_start": 10715,
"cds_end": null,
"cds_length": 11688,
"cdna_start": 10914,
"cdna_end": null,
"cdna_length": 14637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10703T>G",
"hgvs_p": "p.Val3568Gly",
"transcript": "ENST00000672251.1",
"protein_id": "ENSP00000500580.1",
"transcript_support_level": null,
"aa_start": 3568,
"aa_end": null,
"aa_length": 3891,
"cds_start": 10703,
"cds_end": null,
"cds_length": 11676,
"cdna_start": 10883,
"cdna_end": null,
"cdna_length": 14606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.10676T>G",
"hgvs_p": "p.Val3559Gly",
"transcript": "ENST00000673573.1",
"protein_id": "ENSP00000500883.1",
"transcript_support_level": null,
"aa_start": 3559,
"aa_end": null,
"aa_length": 3882,
"cds_start": 10676,
"cds_end": null,
"cds_length": 11649,
"cdna_start": 10876,
"cdna_end": null,
"cdna_length": 14599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.10739T>G",
"hgvs_p": "p.Val3580Gly",
"transcript": "ENST00000673555.1",
"protein_id": "ENSP00000500947.1",
"transcript_support_level": null,
"aa_start": 3580,
"aa_end": null,
"aa_length": 3879,
"cds_start": 10739,
"cds_end": null,
"cds_length": 11640,
"cdna_start": 10938,
"cdna_end": null,
"cdna_length": 14092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10718T>G",
"hgvs_p": "p.Val3573Gly",
"transcript": "ENST00000671882.1",
"protein_id": "ENSP00000499887.1",
"transcript_support_level": null,
"aa_start": 3573,
"aa_end": null,
"aa_length": 3874,
"cds_start": 10718,
"cds_end": null,
"cds_length": 11625,
"cdna_start": 10718,
"cdna_end": null,
"cdna_length": 13878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.10640T>G",
"hgvs_p": "p.Val3547Gly",
"transcript": "ENST00000672934.1",
"protein_id": "ENSP00000500645.1",
"transcript_support_level": null,
"aa_start": 3547,
"aa_end": null,
"aa_length": 3870,
"cds_start": 10640,
"cds_end": null,
"cds_length": 11613,
"cdna_start": 10840,
"cdna_end": null,
"cdna_length": 14563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10616T>G",
"hgvs_p": "p.Val3539Gly",
"transcript": "ENST00000673109.1",
"protein_id": "ENSP00000500265.1",
"transcript_support_level": null,
"aa_start": 3539,
"aa_end": null,
"aa_length": 3862,
"cds_start": 10616,
"cds_end": null,
"cds_length": 11589,
"cdna_start": 10815,
"cdna_end": null,
"cdna_length": 14538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.10739T>G",
"hgvs_p": "p.Val3580Gly",
"transcript": "ENST00000672930.1",
"protein_id": "ENSP00000499913.1",
"transcript_support_level": null,
"aa_start": 3580,
"aa_end": null,
"aa_length": 3848,
"cds_start": 10739,
"cds_end": null,
"cds_length": 11547,
"cdna_start": 10938,
"cdna_end": null,
"cdna_length": 13999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.10739T>G",
"hgvs_p": "p.Val3580Gly",
"transcript": "ENST00000673334.1",
"protein_id": "ENSP00000500854.1",
"transcript_support_level": null,
"aa_start": 3580,
"aa_end": null,
"aa_length": 3820,
"cds_start": 10739,
"cds_end": null,
"cds_length": 11463,
"cdna_start": 10938,
"cdna_end": null,
"cdna_length": 13915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7301T>G",
"hgvs_p": "p.Val2434Gly",
"transcript": "NM_001386166.1",
"protein_id": "NP_001373095.1",
"transcript_support_level": null,
"aa_start": 2434,
"aa_end": null,
"aa_length": 2757,
"cds_start": 7301,
"cds_end": null,
"cds_length": 8274,
"cdna_start": 7404,
"cdna_end": null,
"cdna_length": 10642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4583T>G",
"hgvs_p": "p.Val1528Gly",
"transcript": "NM_001386143.1",
"protein_id": "NP_001373072.1",
"transcript_support_level": null,
"aa_start": 1528,
"aa_end": null,
"aa_length": 1943,
"cds_start": 4583,
"cds_end": null,
"cds_length": 5832,
"cdna_start": 4782,
"cdna_end": null,
"cdna_length": 8296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4583T>G",
"hgvs_p": "p.Val1528Gly",
"transcript": "ENST00000671793.1",
"protein_id": "ENSP00000499928.1",
"transcript_support_level": null,
"aa_start": 1528,
"aa_end": null,
"aa_length": 1943,
"cds_start": 4583,
"cds_end": null,
"cds_length": 5832,
"cdna_start": 4793,
"cdna_end": null,
"cdna_length": 8303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4658T>G",
"hgvs_p": "p.Val1553Gly",
"transcript": "NM_001354225.2",
"protein_id": "NP_001341154.1",
"transcript_support_level": null,
"aa_start": 1553,
"aa_end": null,
"aa_length": 1937,
"cds_start": 4658,
"cds_end": null,
"cds_length": 5814,
"cdna_start": 4973,
"cdna_end": null,
"cdna_length": 8394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4547T>G",
"hgvs_p": "p.Val1516Gly",
"transcript": "NM_001354228.2",
"protein_id": "NP_001341157.1",
"transcript_support_level": null,
"aa_start": 1516,
"aa_end": null,
"aa_length": 1931,
"cds_start": 4547,
"cds_end": null,
"cds_length": 5796,
"cdna_start": 4862,
"cdna_end": null,
"cdna_length": 8376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4547T>G",
"hgvs_p": "p.Val1516Gly",
"transcript": "ENST00000671727.1",
"protein_id": "ENSP00000500102.1",
"transcript_support_level": null,
"aa_start": 1516,
"aa_end": null,
"aa_length": 1931,
"cds_start": 4547,
"cds_end": null,
"cds_length": 5796,
"cdna_start": 4754,
"cdna_end": null,
"cdna_length": 8257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4631T>G",
"hgvs_p": "p.Val1544Gly",
"transcript": "NM_001386186.2",
"protein_id": "NP_001373115.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1928,
"cds_start": 4631,
"cds_end": null,
"cds_length": 5787,
"cdna_start": 5155,
"cdna_end": null,
"cdna_length": 8576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4625T>G",
"hgvs_p": "p.Val1542Gly",
"transcript": "NM_001354230.2",
"protein_id": "NP_001341159.1",
"transcript_support_level": null,
"aa_start": 1542,
"aa_end": null,
"aa_length": 1926,
"cds_start": 4625,
"cds_end": null,
"cds_length": 5781,
"cdna_start": 4906,
"cdna_end": null,
"cdna_length": 8327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4691T>G",
"hgvs_p": "p.Val1564Gly",
"transcript": "NM_001386144.1",
"protein_id": "NP_001373073.1",
"transcript_support_level": null,
"aa_start": 1564,
"aa_end": null,
"aa_length": 1918,
"cds_start": 4691,
"cds_end": null,
"cds_length": 5757,
"cdna_start": 4972,
"cdna_end": null,
"cdna_length": 8303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4688T>G",
"hgvs_p": "p.Val1563Gly",
"transcript": "NM_001354231.2",
"protein_id": "NP_001341160.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1917,
"cds_start": 4688,
"cds_end": null,
"cds_length": 5754,
"cdna_start": 4969,
"cdna_end": null,
"cdna_length": 8300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4682T>G",
"hgvs_p": "p.Val1561Gly",
"transcript": "NM_001354232.2",
"protein_id": "NP_001341161.1",
"transcript_support_level": null,
"aa_start": 1561,
"aa_end": null,
"aa_length": 1915,
"cds_start": 4682,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 4997,
"cdna_end": null,
"cdna_length": 8328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4682T>G",
"hgvs_p": "p.Val1561Gly",
"transcript": "ENST00000671762.1",
"protein_id": "ENSP00000500954.1",
"transcript_support_level": null,
"aa_start": 1561,
"aa_end": null,
"aa_length": 1915,
"cds_start": 4682,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 4889,
"cdna_end": null,
"cdna_length": 8690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4484T>G",
"hgvs_p": "p.Val1495Gly",
"transcript": "ENST00000673430.1",
"protein_id": "ENSP00000500269.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1910,
"cds_start": 4484,
"cds_end": null,
"cds_length": 5733,
"cdna_start": 4683,
"cdna_end": null,
"cdna_length": 8186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4643T>G",
"hgvs_p": "p.Val1548Gly",
"transcript": "NM_001354235.2",
"protein_id": "NP_001341164.1",
"transcript_support_level": null,
"aa_start": 1548,
"aa_end": null,
"aa_length": 1902,
"cds_start": 4643,
"cds_end": null,
"cds_length": 5709,
"cdna_start": 4958,
"cdna_end": null,
"cdna_length": 8289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4544T>G",
"hgvs_p": "p.Val1515Gly",
"transcript": "NM_001354236.2",
"protein_id": "NP_001341165.1",
"transcript_support_level": null,
"aa_start": 1515,
"aa_end": null,
"aa_length": 1899,
"cds_start": 4544,
"cds_end": null,
"cds_length": 5700,
"cdna_start": 4859,
"cdna_end": null,
"cdna_length": 8280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4727T>G",
"hgvs_p": "p.Val1576Gly",
"transcript": "ENST00000705785.1",
"protein_id": "ENSP00000516169.1",
"transcript_support_level": null,
"aa_start": 1576,
"aa_end": null,
"aa_length": 1899,
"cds_start": 4727,
"cds_end": null,
"cds_length": 5700,
"cdna_start": 5008,
"cdna_end": null,
"cdna_length": 8246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4724T>G",
"hgvs_p": "p.Val1575Gly",
"transcript": "NM_001354237.2",
"protein_id": "NP_001341166.1",
"transcript_support_level": null,
"aa_start": 1575,
"aa_end": null,
"aa_length": 1898,
"cds_start": 4724,
"cds_end": null,
"cds_length": 5697,
"cdna_start": 5005,
"cdna_end": null,
"cdna_length": 8243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4619T>G",
"hgvs_p": "p.Val1540Gly",
"transcript": "ENST00000672362.1",
"protein_id": "ENSP00000500522.1",
"transcript_support_level": null,
"aa_start": 1540,
"aa_end": null,
"aa_length": 1894,
"cds_start": 4619,
"cds_end": null,
"cds_length": 5685,
"cdna_start": 4818,
"cdna_end": null,
"cdna_length": 8619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4616T>G",
"hgvs_p": "p.Val1539Gly",
"transcript": "NM_001354239.2",
"protein_id": "NP_001341168.1",
"transcript_support_level": null,
"aa_start": 1539,
"aa_end": null,
"aa_length": 1893,
"cds_start": 4616,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 4815,
"cdna_end": null,
"cdna_length": 8146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4427T>G",
"hgvs_p": "p.Val1476Gly",
"transcript": "NM_001386146.1",
"protein_id": "NP_001373075.1",
"transcript_support_level": null,
"aa_start": 1476,
"aa_end": null,
"aa_length": 1891,
"cds_start": 4427,
"cds_end": null,
"cds_length": 5676,
"cdna_start": 4626,
"cdna_end": null,
"cdna_length": 8140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4520T>G",
"hgvs_p": "p.Val1507Gly",
"transcript": "ENST00000672990.1",
"protein_id": "ENSP00000500275.1",
"transcript_support_level": null,
"aa_start": 1507,
"aa_end": null,
"aa_length": 1891,
"cds_start": 4520,
"cds_end": null,
"cds_length": 5676,
"cdna_start": 4719,
"cdna_end": null,
"cdna_length": 8129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4691T>G",
"hgvs_p": "p.Val1564Gly",
"transcript": "NM_001354240.2",
"protein_id": "NP_001341169.1",
"transcript_support_level": null,
"aa_start": 1564,
"aa_end": null,
"aa_length": 1887,
"cds_start": 4691,
"cds_end": null,
"cds_length": 5664,
"cdna_start": 4972,
"cdna_end": null,
"cdna_length": 8210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4691T>G",
"hgvs_p": "p.Val1564Gly",
"transcript": "NM_001354241.2",
"protein_id": "NP_001341170.1",
"transcript_support_level": null,
"aa_start": 1564,
"aa_end": null,
"aa_length": 1887,
"cds_start": 4691,
"cds_end": null,
"cds_length": 5664,
"cdna_start": 5006,
"cdna_end": null,
"cdna_length": 8244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4691T>G",
"hgvs_p": "p.Val1564Gly",
"transcript": "ENST00000672779.1",
"protein_id": "ENSP00000499869.1",
"transcript_support_level": null,
"aa_start": 1564,
"aa_end": null,
"aa_length": 1887,
"cds_start": 4691,
"cds_end": null,
"cds_length": 5664,
"cdna_start": 4744,
"cdna_end": null,
"cdna_length": 8467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4691T>G",
"hgvs_p": "p.Val1564Gly",
"transcript": "ENST00000673240.1",
"protein_id": "ENSP00000499996.1",
"transcript_support_level": null,
"aa_start": 1564,
"aa_end": null,
"aa_length": 1887,
"cds_start": 4691,
"cds_end": null,
"cds_length": 5664,
"cdna_start": 5284,
"cdna_end": null,
"cdna_length": 9007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4688T>G",
"hgvs_p": "p.Val1563Gly",
"transcript": "NM_001354242.2",
"protein_id": "NP_001341171.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1886,
"cds_start": 4688,
"cds_end": null,
"cds_length": 5661,
"cdna_start": 4969,
"cdna_end": null,
"cdna_length": 8207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4583T>G",
"hgvs_p": "p.Val1528Gly",
"transcript": "NM_001354243.2",
"protein_id": "NP_001341172.1",
"transcript_support_level": null,
"aa_start": 1528,
"aa_end": null,
"aa_length": 1882,
"cds_start": 4583,
"cds_end": null,
"cds_length": 5649,
"cdna_start": 4782,
"cdna_end": null,
"cdna_length": 8113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4583T>G",
"hgvs_p": "p.Val1528Gly",
"transcript": "ENST00000672402.1",
"protein_id": "ENSP00000500881.1",
"transcript_support_level": null,
"aa_start": 1528,
"aa_end": null,
"aa_length": 1882,
"cds_start": 4583,
"cds_end": null,
"cds_length": 5649,
"cdna_start": 4793,
"cdna_end": null,
"cdna_length": 8594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4580T>G",
"hgvs_p": "p.Val1527Gly",
"transcript": "NM_001354244.2",
"protein_id": "NP_001341173.1",
"transcript_support_level": null,
"aa_start": 1527,
"aa_end": null,
"aa_length": 1881,
"cds_start": 4580,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 4779,
"cdna_end": null,
"cdna_length": 8110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4490T>G",
"hgvs_p": "p.Val1497Gly",
"transcript": "NM_001386160.1",
"protein_id": "NP_001373089.1",
"transcript_support_level": null,
"aa_start": 1497,
"aa_end": null,
"aa_length": 1881,
"cds_start": 4490,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 4689,
"cdna_end": null,
"cdna_length": 8110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4484T>G",
"hgvs_p": "p.Val1495Gly",
"transcript": "NM_001354245.2",
"protein_id": "NP_001341174.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1879,
"cds_start": 4484,
"cds_end": null,
"cds_length": 5640,
"cdna_start": 4799,
"cdna_end": null,
"cdna_length": 8220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4484T>G",
"hgvs_p": "p.Val1495Gly",
"transcript": "ENST00000672045.1",
"protein_id": "ENSP00000499959.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1879,
"cds_start": 4484,
"cds_end": null,
"cds_length": 5640,
"cdna_start": 4664,
"cdna_end": null,
"cdna_length": 8074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4484T>G",
"hgvs_p": "p.Val1495Gly",
"transcript": "ENST00000672880.1",
"protein_id": "ENSP00000500866.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1879,
"cds_start": 4484,
"cds_end": null,
"cds_length": 5640,
"cdna_start": 4683,
"cdna_end": null,
"cdna_length": 8093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4472T>G",
"hgvs_p": "p.Val1491Gly",
"transcript": "NM_001386147.1",
"protein_id": "NP_001373076.1",
"transcript_support_level": null,
"aa_start": 1491,
"aa_end": null,
"aa_length": 1875,
"cds_start": 4472,
"cds_end": null,
"cds_length": 5628,
"cdna_start": 4671,
"cdna_end": null,
"cdna_length": 8092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4646T>G",
"hgvs_p": "p.Val1549Gly",
"transcript": "NM_020977.5",
"protein_id": "NP_066187.2",
"transcript_support_level": null,
"aa_start": 1549,
"aa_end": null,
"aa_length": 1872,
"cds_start": 4646,
"cds_end": null,
"cds_length": 5619,
"cdna_start": 4722,
"cdna_end": null,
"cdna_length": 7960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4484T>G",
"hgvs_p": "p.Val1495Gly",
"transcript": "ENST00000673255.1",
"protein_id": "ENSP00000500423.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1872,
"cds_start": 4484,
"cds_end": null,
"cds_length": 5619,
"cdna_start": 4683,
"cdna_end": null,
"cdna_length": 8123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4643T>G",
"hgvs_p": "p.Val1548Gly",
"transcript": "NM_001354246.2",
"protein_id": "NP_001341175.1",
"transcript_support_level": null,
"aa_start": 1548,
"aa_end": null,
"aa_length": 1871,
"cds_start": 4643,
"cds_end": null,
"cds_length": 5616,
"cdna_start": 4958,
"cdna_end": null,
"cdna_length": 8196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4460T>G",
"hgvs_p": "p.Val1487Gly",
"transcript": "NM_001354249.2",
"protein_id": "NP_001341178.1",
"transcript_support_level": null,
"aa_start": 1487,
"aa_end": null,
"aa_length": 1871,
"cds_start": 4460,
"cds_end": null,
"cds_length": 5616,
"cdna_start": 4659,
"cdna_end": null,
"cdna_length": 8080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4460T>G",
"hgvs_p": "p.Val1487Gly",
"transcript": "ENST00000672088.1",
"protein_id": "ENSP00000499837.1",
"transcript_support_level": null,
"aa_start": 1487,
"aa_end": null,
"aa_length": 1871,
"cds_start": 4460,
"cds_end": null,
"cds_length": 5616,
"cdna_start": 4670,
"cdna_end": null,
"cdna_length": 8080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4631T>G",
"hgvs_p": "p.Val1544Gly",
"transcript": "NM_001386148.2",
"protein_id": "NP_001373077.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1867,
"cds_start": 4631,
"cds_end": null,
"cds_length": 5604,
"cdna_start": 5155,
"cdna_end": null,
"cdna_length": 8393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4619T>G",
"hgvs_p": "p.Val1540Gly",
"transcript": "NM_001127493.3",
"protein_id": "NP_001120965.1",
"transcript_support_level": null,
"aa_start": 1540,
"aa_end": null,
"aa_length": 1863,
"cds_start": 4619,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 4818,
"cdna_end": null,
"cdna_length": 8056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4616T>G",
"hgvs_p": "p.Val1539Gly",
"transcript": "NM_001354252.2",
"protein_id": "NP_001341181.1",
"transcript_support_level": null,
"aa_start": 1539,
"aa_end": null,
"aa_length": 1862,
"cds_start": 4616,
"cds_end": null,
"cds_length": 5589,
"cdna_start": 4815,
"cdna_end": null,
"cdna_length": 8053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4427T>G",
"hgvs_p": "p.Val1476Gly",
"transcript": "NM_001386149.1",
"protein_id": "NP_001373078.1",
"transcript_support_level": null,
"aa_start": 1476,
"aa_end": null,
"aa_length": 1860,
"cds_start": 4427,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 4626,
"cdna_end": null,
"cdna_length": 8047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4421T>G",
"hgvs_p": "p.Val1474Gly",
"transcript": "NM_001354253.2",
"protein_id": "NP_001341182.1",
"transcript_support_level": null,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1858,
"cds_start": 4421,
"cds_end": null,
"cds_length": 5577,
"cdna_start": 4620,
"cdna_end": null,
"cdna_length": 8041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4421T>G",
"hgvs_p": "p.Val1474Gly",
"transcript": "ENST00000672350.1",
"protein_id": "ENSP00000500420.1",
"transcript_support_level": null,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1858,
"cds_start": 4421,
"cds_end": null,
"cds_length": 5577,
"cdna_start": 4621,
"cdna_end": null,
"cdna_length": 8031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4595T>G",
"hgvs_p": "p.Val1532Gly",
"transcript": "NM_001354254.2",
"protein_id": "NP_001341183.1",
"transcript_support_level": null,
"aa_start": 1532,
"aa_end": null,
"aa_length": 1855,
"cds_start": 4595,
"cds_end": null,
"cds_length": 5568,
"cdna_start": 4794,
"cdna_end": null,
"cdna_length": 8032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4583T>G",
"hgvs_p": "p.Val1528Gly",
"transcript": "NM_001354255.2",
"protein_id": "NP_001341184.1",
"transcript_support_level": null,
"aa_start": 1528,
"aa_end": null,
"aa_length": 1851,
"cds_start": 4583,
"cds_end": null,
"cds_length": 5556,
"cdna_start": 4782,
"cdna_end": null,
"cdna_length": 8020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4583T>G",
"hgvs_p": "p.Val1528Gly",
"transcript": "ENST00000671825.1",
"protein_id": "ENSP00000500459.1",
"transcript_support_level": null,
"aa_start": 1528,
"aa_end": null,
"aa_length": 1851,
"cds_start": 4583,
"cds_end": null,
"cds_length": 5556,
"cdna_start": 4793,
"cdna_end": null,
"cdna_length": 8516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4580T>G",
"hgvs_p": "p.Val1527Gly",
"transcript": "NM_001354256.2",
"protein_id": "NP_001341185.1",
"transcript_support_level": null,
"aa_start": 1527,
"aa_end": null,
"aa_length": 1850,
"cds_start": 4580,
"cds_end": null,
"cds_length": 5553,
"cdna_start": 4779,
"cdna_end": null,
"cdna_length": 8017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4580T>G",
"hgvs_p": "p.Val1527Gly",
"transcript": "NM_001386161.1",
"protein_id": "NP_001373090.1",
"transcript_support_level": null,
"aa_start": 1527,
"aa_end": null,
"aa_length": 1850,
"cds_start": 4580,
"cds_end": null,
"cds_length": 5553,
"cdna_start": 4671,
"cdna_end": null,
"cdna_length": 7909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4484T>G",
"hgvs_p": "p.Val1495Gly",
"transcript": "ENST00000672793.1",
"protein_id": "ENSP00000500150.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1849,
"cds_start": 4484,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 4683,
"cdna_end": null,
"cdna_length": 8484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4385T>G",
"hgvs_p": "p.Val1462Gly",
"transcript": "NM_001354257.2",
"protein_id": "NP_001341186.1",
"transcript_support_level": null,
"aa_start": 1462,
"aa_end": null,
"aa_length": 1846,
"cds_start": 4385,
"cds_end": null,
"cds_length": 5541,
"cdna_start": 4584,
"cdna_end": null,
"cdna_length": 8005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4385T>G",
"hgvs_p": "p.Val1462Gly",
"transcript": "ENST00000671854.1",
"protein_id": "ENSP00000500833.1",
"transcript_support_level": null,
"aa_start": 1462,
"aa_end": null,
"aa_length": 1846,
"cds_start": 4385,
"cds_end": null,
"cds_length": 5541,
"cdna_start": 4585,
"cdna_end": null,
"cdna_length": 7995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4547T>G",
"hgvs_p": "p.Val1516Gly",
"transcript": "NM_001354258.2",
"protein_id": "NP_001341187.1",
"transcript_support_level": null,
"aa_start": 1516,
"aa_end": null,
"aa_length": 1839,
"cds_start": 4547,
"cds_end": null,
"cds_length": 5520,
"cdna_start": 4862,
"cdna_end": null,
"cdna_length": 8100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4547T>G",
"hgvs_p": "p.Val1516Gly",
"transcript": "ENST00000672366.1",
"protein_id": "ENSP00000500937.1",
"transcript_support_level": null,
"aa_start": 1516,
"aa_end": null,
"aa_length": 1839,
"cds_start": 4547,
"cds_end": null,
"cds_length": 5520,
"cdna_start": 4754,
"cdna_end": null,
"cdna_length": 8477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4361T>G",
"hgvs_p": "p.Val1454Gly",
"transcript": "NM_001354260.2",
"protein_id": "NP_001341189.1",
"transcript_support_level": null,
"aa_start": 1454,
"aa_end": null,
"aa_length": 1838,
"cds_start": 4361,
"cds_end": null,
"cds_length": 5517,
"cdna_start": 4560,
"cdna_end": null,
"cdna_length": 7981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4361T>G",
"hgvs_p": "p.Val1454Gly",
"transcript": "ENST00000672356.1",
"protein_id": "ENSP00000500544.1",
"transcript_support_level": null,
"aa_start": 1454,
"aa_end": null,
"aa_length": 1838,
"cds_start": 4361,
"cds_end": null,
"cds_length": 5517,
"cdna_start": 4633,
"cdna_end": null,
"cdna_length": 8043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4427T>G",
"hgvs_p": "p.Val1476Gly",
"transcript": "NM_001386150.1",
"protein_id": "NP_001373079.1",
"transcript_support_level": null,
"aa_start": 1476,
"aa_end": null,
"aa_length": 1830,
"cds_start": 4427,
"cds_end": null,
"cds_length": 5493,
"cdna_start": 4626,
"cdna_end": null,
"cdna_length": 7957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4520T>G",
"hgvs_p": "p.Val1507Gly",
"transcript": "ENST00000672965.1",
"protein_id": "ENSP00000499891.1",
"transcript_support_level": null,
"aa_start": 1507,
"aa_end": null,
"aa_length": 1830,
"cds_start": 4520,
"cds_end": null,
"cds_length": 5493,
"cdna_start": 4719,
"cdna_end": null,
"cdna_length": 8442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4511T>G",
"hgvs_p": "p.Val1504Gly",
"transcript": "NM_001386187.2",
"protein_id": "NP_001373116.1",
"transcript_support_level": null,
"aa_start": 1504,
"aa_end": null,
"aa_length": 1827,
"cds_start": 4511,
"cds_end": null,
"cds_length": 5484,
"cdna_start": 5035,
"cdna_end": null,
"cdna_length": 8273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4583T>G",
"hgvs_p": "p.Val1528Gly",
"transcript": "ENST00000672696.1",
"protein_id": "ENSP00000499828.1",
"transcript_support_level": null,
"aa_start": 1528,
"aa_end": null,
"aa_length": 1827,
"cds_start": 4583,
"cds_end": null,
"cds_length": 5484,
"cdna_start": 4793,
"cdna_end": null,
"cdna_length": 7947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4505T>G",
"hgvs_p": "p.Val1502Gly",
"transcript": "NM_001354261.2",
"protein_id": "NP_001341190.1",
"transcript_support_level": null,
"aa_start": 1502,
"aa_end": null,
"aa_length": 1825,
"cds_start": 4505,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 4693,
"cdna_end": null,
"cdna_length": 7931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4496T>G",
"hgvs_p": "p.Val1499Gly",
"transcript": "ENST00000672177.1",
"protein_id": "ENSP00000500918.1",
"transcript_support_level": null,
"aa_start": 1499,
"aa_end": null,
"aa_length": 1822,
"cds_start": 4496,
"cds_end": null,
"cds_length": 5469,
"cdna_start": 4695,
"cdna_end": null,
"cdna_length": 8418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4484T>G",
"hgvs_p": "p.Val1495Gly",
"transcript": "NM_001354262.2",
"protein_id": "NP_001341191.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1818,
"cds_start": 4484,
"cds_end": null,
"cds_length": 5457,
"cdna_start": 4683,
"cdna_end": null,
"cdna_length": 7921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4484T>G",
"hgvs_p": "p.Val1495Gly",
"transcript": "ENST00000672312.1",
"protein_id": "ENSP00000500378.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1818,
"cds_start": 4484,
"cds_end": null,
"cds_length": 5457,
"cdna_start": 4694,
"cdna_end": null,
"cdna_length": 8417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4481T>G",
"hgvs_p": "p.Val1494Gly",
"transcript": "NM_001354264.2",
"protein_id": "NP_001341193.1",
"transcript_support_level": null,
"aa_start": 1494,
"aa_end": null,
"aa_length": 1817,
"cds_start": 4481,
"cds_end": null,
"cds_length": 5454,
"cdna_start": 4669,
"cdna_end": null,
"cdna_length": 7907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4481T>G",
"hgvs_p": "p.Val1494Gly",
"transcript": "ENST00000672221.1",
"protein_id": "ENSP00000500473.1",
"transcript_support_level": null,
"aa_start": 1494,
"aa_end": null,
"aa_length": 1817,
"cds_start": 4481,
"cds_end": null,
"cds_length": 5454,
"cdna_start": 4591,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4643T>G",
"hgvs_p": "p.Val1548Gly",
"transcript": "NM_001354265.2",
"protein_id": "NP_001341194.1",
"transcript_support_level": null,
"aa_start": 1548,
"aa_end": null,
"aa_length": 1816,
"cds_start": 4643,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 4958,
"cdna_end": null,
"cdna_length": 8031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4460T>G",
"hgvs_p": "p.Val1487Gly",
"transcript": "NM_001354266.2",
"protein_id": "NP_001341195.1",
"transcript_support_level": null,
"aa_start": 1487,
"aa_end": null,
"aa_length": 1810,
"cds_start": 4460,
"cds_end": null,
"cds_length": 5433,
"cdna_start": 4659,
"cdna_end": null,
"cdna_length": 7897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4460T>G",
"hgvs_p": "p.Val1487Gly",
"transcript": "NM_001354267.2",
"protein_id": "NP_001341196.1",
"transcript_support_level": null,
"aa_start": 1487,
"aa_end": null,
"aa_length": 1810,
"cds_start": 4460,
"cds_end": null,
"cds_length": 5433,
"cdna_start": 4648,
"cdna_end": null,
"cdna_length": 7886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4460T>G",
"hgvs_p": "p.Val1487Gly",
"transcript": "ENST00000671704.1",
"protein_id": "ENSP00000500926.1",
"transcript_support_level": null,
"aa_start": 1487,
"aa_end": null,
"aa_length": 1810,
"cds_start": 4460,
"cds_end": null,
"cds_length": 5433,
"cdna_start": 4615,
"cdna_end": null,
"cdna_length": 8338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4460T>G",
"hgvs_p": "p.Val1487Gly",
"transcript": "ENST00000672955.1",
"protein_id": "ENSP00000500527.1",
"transcript_support_level": null,
"aa_start": 1487,
"aa_end": null,
"aa_length": 1810,
"cds_start": 4460,
"cds_end": null,
"cds_length": 5433,
"cdna_start": 4711,
"cdna_end": null,
"cdna_length": 8434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4361T>G",
"hgvs_p": "p.Val1454Gly",
"transcript": "NM_001386151.1",
"protein_id": "NP_001373080.1",
"transcript_support_level": null,
"aa_start": 1454,
"aa_end": null,
"aa_length": 1808,
"cds_start": 4361,
"cds_end": null,
"cds_length": 5427,
"cdna_start": 4560,
"cdna_end": null,
"cdna_length": 7891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4703T>G",
"hgvs_p": "p.Val1568Gly",
"transcript": "NM_001386152.1",
"protein_id": "NP_001373081.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1808,
"cds_start": 4703,
"cds_end": null,
"cds_length": 5427,
"cdna_start": 4984,
"cdna_end": null,
"cdna_length": 7973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4448T>G",
"hgvs_p": "p.Val1483Gly",
"transcript": "NM_001354268.2",
"protein_id": "NP_001341197.1",
"transcript_support_level": null,
"aa_start": 1483,
"aa_end": null,
"aa_length": 1806,
"cds_start": 4448,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 4763,
"cdna_end": null,
"cdna_length": 8001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4448T>G",
"hgvs_p": "p.Val1483Gly",
"transcript": "ENST00000672854.1",
"protein_id": "ENSP00000500311.1",
"transcript_support_level": null,
"aa_start": 1483,
"aa_end": null,
"aa_length": 1806,
"cds_start": 4448,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 4628,
"cdna_end": null,
"cdna_length": 8351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4433T>G",
"hgvs_p": "p.Val1478Gly",
"transcript": "NM_001354269.3",
"protein_id": "NP_001341198.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1801,
"cds_start": 4433,
"cds_end": null,
"cds_length": 5406,
"cdna_start": 4957,
"cdna_end": null,
"cdna_length": 8195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4427T>G",
"hgvs_p": "p.Val1476Gly",
"transcript": "NM_001386153.1",
"protein_id": "NP_001373082.1",
"transcript_support_level": null,
"aa_start": 1476,
"aa_end": null,
"aa_length": 1799,
"cds_start": 4427,
"cds_end": null,
"cds_length": 5400,
"cdna_start": 4626,
"cdna_end": null,
"cdna_length": 7864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4421T>G",
"hgvs_p": "p.Val1474Gly",
"transcript": "NM_001354270.2",
"protein_id": "NP_001341199.1",
"transcript_support_level": null,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1797,
"cds_start": 4421,
"cds_end": null,
"cds_length": 5394,
"cdna_start": 4620,
"cdna_end": null,
"cdna_length": 7858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4421T>G",
"hgvs_p": "p.Val1474Gly",
"transcript": "ENST00000673546.1",
"protein_id": "ENSP00000500843.1",
"transcript_support_level": null,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1797,
"cds_start": 4421,
"cds_end": null,
"cds_length": 5394,
"cdna_start": 4621,
"cdna_end": null,
"cdna_length": 8344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4412T>G",
"hgvs_p": "p.Val1471Gly",
"transcript": "NM_001386154.1",
"protein_id": "NP_001373083.1",
"transcript_support_level": null,
"aa_start": 1471,
"aa_end": null,
"aa_length": 1794,
"cds_start": 4412,
"cds_end": null,
"cds_length": 5385,
"cdna_start": 4611,
"cdna_end": null,
"cdna_length": 7849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4385T>G",
"hgvs_p": "p.Val1462Gly",
"transcript": "NM_001386156.1",
"protein_id": "NP_001373085.1",
"transcript_support_level": null,
"aa_start": 1462,
"aa_end": null,
"aa_length": 1785,
"cds_start": 4385,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 4573,
"cdna_end": null,
"cdna_length": 7811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4385T>G",
"hgvs_p": "p.Val1462Gly",
"transcript": "ENST00000672684.1",
"protein_id": "ENSP00000499943.1",
"transcript_support_level": null,
"aa_start": 1462,
"aa_end": null,
"aa_length": 1785,
"cds_start": 4385,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 4585,
"cdna_end": null,
"cdna_length": 8308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4361T>G",
"hgvs_p": "p.Val1454Gly",
"transcript": "NM_001354271.2",
"protein_id": "NP_001341200.1",
"transcript_support_level": null,
"aa_start": 1454,
"aa_end": null,
"aa_length": 1777,
"cds_start": 4361,
"cds_end": null,
"cds_length": 5334,
"cdna_start": 4549,
"cdna_end": null,
"cdna_length": 7787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4361T>G",
"hgvs_p": "p.Val1454Gly",
"transcript": "ENST00000671951.1",
"protein_id": "ENSP00000500528.1",
"transcript_support_level": null,
"aa_start": 1454,
"aa_end": null,
"aa_length": 1777,
"cds_start": 4361,
"cds_end": null,
"cds_length": 5334,
"cdna_start": 4593,
"cdna_end": null,
"cdna_length": 8316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4361T>G",
"hgvs_p": "p.Val1454Gly",
"transcript": "ENST00000672759.1",
"protein_id": "ENSP00000499881.1",
"transcript_support_level": null,
"aa_start": 1454,
"aa_end": null,
"aa_length": 1777,
"cds_start": 4361,
"cds_end": null,
"cds_length": 5334,
"cdna_start": 4560,
"cdna_end": null,
"cdna_length": 8283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4517T>G",
"hgvs_p": "p.Val1506Gly",
"transcript": "NM_001354272.2",
"protein_id": "NP_001341201.1",
"transcript_support_level": null,
"aa_start": 1506,
"aa_end": null,
"aa_length": 1774,
"cds_start": 4517,
"cds_end": null,
"cds_length": 5325,
"cdna_start": 4716,
"cdna_end": null,
"cdna_length": 7789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4346T>G",
"hgvs_p": "p.Val1449Gly",
"transcript": "NM_001354273.2",
"protein_id": "NP_001341202.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1772,
"cds_start": 4346,
"cds_end": null,
"cds_length": 5319,
"cdna_start": 4661,
"cdna_end": null,
"cdna_length": 7899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4412T>G",
"hgvs_p": "p.Val1471Gly",
"transcript": "NM_001354274.2",
"protein_id": "NP_001341203.1",
"transcript_support_level": null,
"aa_start": 1471,
"aa_end": null,
"aa_length": 1770,
"cds_start": 4412,
"cds_end": null,
"cds_length": 5313,
"cdna_start": 4611,
"cdna_end": null,
"cdna_length": 7777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4412T>G",
"hgvs_p": "p.Val1471Gly",
"transcript": "ENST00000673453.1",
"protein_id": "ENSP00000500112.1",
"transcript_support_level": null,
"aa_start": 1471,
"aa_end": null,
"aa_length": 1770,
"cds_start": 4412,
"cds_end": null,
"cds_length": 5313,
"cdna_start": 4611,
"cdna_end": null,
"cdna_length": 7765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4583T>G",
"hgvs_p": "p.Val1528Gly",
"transcript": "ENST00000672315.1",
"protein_id": "ENSP00000500780.1",
"transcript_support_level": null,
"aa_start": 1528,
"aa_end": null,
"aa_length": 1768,
"cds_start": 4583,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 4793,
"cdna_end": null,
"cdna_length": 7770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4583T>G",
"hgvs_p": "p.Val1528Gly",
"transcript": "ENST00000673044.1",
"protein_id": "ENSP00000500933.1",
"transcript_support_level": null,
"aa_start": 1528,
"aa_end": null,
"aa_length": 1768,
"cds_start": 4583,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 4793,
"cdna_end": null,
"cdna_length": 7770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4484T>G",
"hgvs_p": "p.Val1495Gly",
"transcript": "NM_001354275.2",
"protein_id": "NP_001341204.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1763,
"cds_start": 4484,
"cds_end": null,
"cds_length": 5292,
"cdna_start": 4683,
"cdna_end": null,
"cdna_length": 7756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4484T>G",
"hgvs_p": "p.Val1495Gly",
"transcript": "ENST00000671756.1",
"protein_id": "ENSP00000500712.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1763,
"cds_start": 4484,
"cds_end": null,
"cds_length": 5292,
"cdna_start": 4683,
"cdna_end": null,
"cdna_length": 8241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4469T>G",
"hgvs_p": "p.Val1490Gly",
"transcript": "ENST00000672246.1",
"protein_id": "ENSP00000499990.1",
"transcript_support_level": null,
"aa_start": 1490,
"aa_end": null,
"aa_length": 1758,
"cds_start": 4469,
"cds_end": null,
"cds_length": 5277,
"cdna_start": 4668,
"cdna_end": null,
"cdna_length": 7729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4460T>G",
"hgvs_p": "p.Val1487Gly",
"transcript": "NM_001354276.2",
"protein_id": "NP_001341205.1",
"transcript_support_level": null,
"aa_start": 1487,
"aa_end": null,
"aa_length": 1755,
"cds_start": 4460,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 4659,
"cdna_end": null,
"cdna_length": 7732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4460T>G",
"hgvs_p": "p.Val1487Gly",
"transcript": "NM_001386162.1",
"protein_id": "NP_001373091.1",
"transcript_support_level": null,
"aa_start": 1487,
"aa_end": null,
"aa_length": 1755,
"cds_start": 4460,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 4648,
"cdna_end": null,
"cdna_length": 7721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4460T>G",
"hgvs_p": "p.Val1487Gly",
"transcript": "ENST00000672731.1",
"protein_id": "ENSP00000500908.1",
"transcript_support_level": null,
"aa_start": 1487,
"aa_end": null,
"aa_length": 1755,
"cds_start": 4460,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 4660,
"cdna_end": null,
"cdna_length": 7721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4262T>G",
"hgvs_p": "p.Val1421Gly",
"transcript": "NM_001386157.1",
"protein_id": "NP_001373086.1",
"transcript_support_level": null,
"aa_start": 1421,
"aa_end": null,
"aa_length": 1744,
"cds_start": 4262,
"cds_end": null,
"cds_length": 5235,
"cdna_start": 4461,
"cdna_end": null,
"cdna_length": 7699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4064T>G",
"hgvs_p": "p.Val1355Gly",
"transcript": "ENST00000672986.1",
"protein_id": "ENSP00000499967.1",
"transcript_support_level": null,
"aa_start": 1355,
"aa_end": null,
"aa_length": 1739,
"cds_start": 4064,
"cds_end": null,
"cds_length": 5220,
"cdna_start": 4210,
"cdna_end": null,
"cdna_length": 7620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4163T>G",
"hgvs_p": "p.Val1388Gly",
"transcript": "NM_001386158.1",
"protein_id": "NP_001373087.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1711,
"cds_start": 4163,
"cds_end": null,
"cds_length": 5136,
"cdna_start": 4351,
"cdna_end": null,
"cdna_length": 7589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.4154T>G",
"hgvs_p": "p.Val1385Gly",
"transcript": "ENST00000673536.1",
"protein_id": "ENSP00000500524.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1708,
"cds_start": 4154,
"cds_end": null,
"cds_length": 5127,
"cdna_start": 4802,
"cdna_end": null,
"cdna_length": 8525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4262T>G",
"hgvs_p": "p.Val1421Gly",
"transcript": "NM_001354277.2",
"protein_id": "NP_001341206.1",
"transcript_support_level": null,
"aa_start": 1421,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4262,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 4461,
"cdna_end": null,
"cdna_length": 7534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4262T>G",
"hgvs_p": "p.Val1421Gly",
"transcript": "ENST00000671893.1",
"protein_id": "ENSP00000499986.1",
"transcript_support_level": null,
"aa_start": 1421,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4262,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 4461,
"cdna_end": null,
"cdna_length": 7522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2174T>G",
"hgvs_p": "p.Val725Gly",
"transcript": "NM_001354278.2",
"protein_id": "NP_001341207.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 1109,
"cds_start": 2174,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 2484,
"cdna_end": null,
"cdna_length": 5905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2174T>G",
"hgvs_p": "p.Val725Gly",
"transcript": "ENST00000673353.1",
"protein_id": "ENSP00000500007.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 1109,
"cds_start": 2174,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 5956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2033T>G",
"hgvs_p": "p.Val678Gly",
"transcript": "ENST00000505342.6",
"protein_id": "ENSP00000422498.2",
"transcript_support_level": 5,
"aa_start": 678,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2033,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 5732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2210T>G",
"hgvs_p": "p.Val737Gly",
"transcript": "NM_001354279.2",
"protein_id": "NP_001341208.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2210,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 2520,
"cdna_end": null,
"cdna_length": 5758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2210T>G",
"hgvs_p": "p.Val737Gly",
"transcript": "ENST00000673231.1",
"protein_id": "ENSP00000500111.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2210,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 2647,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2195T>G",
"hgvs_p": "p.Val732Gly",
"transcript": "NM_001354280.2",
"protein_id": "NP_001341209.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2195,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 2505,
"cdna_end": null,
"cdna_length": 5743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2195T>G",
"hgvs_p": "p.Val732Gly",
"transcript": "ENST00000673048.1",
"protein_id": "ENSP00000500832.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2195,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 6062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2174T>G",
"hgvs_p": "p.Val725Gly",
"transcript": "NM_001354281.2",
"protein_id": "NP_001341210.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 1048,
"cds_start": 2174,
"cds_end": null,
"cds_length": 3147,
"cdna_start": 2484,
"cdna_end": null,
"cdna_length": 5722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2174T>G",
"hgvs_p": "p.Val725Gly",
"transcript": "ENST00000509550.5",
"protein_id": "ENSP00000426944.1",
"transcript_support_level": 2,
"aa_start": 725,
"aa_end": null,
"aa_length": 1048,
"cds_start": 2174,
"cds_end": null,
"cds_length": 3147,
"cdna_start": 2489,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2210T>G",
"hgvs_p": "p.Val737Gly",
"transcript": "NM_001354282.2",
"protein_id": "NP_001341211.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2210,
"cds_end": null,
"cds_length": 3018,
"cdna_start": 2520,
"cdna_end": null,
"cdna_length": 5593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2210T>G",
"hgvs_p": "p.Val737Gly",
"transcript": "ENST00000672411.1",
"protein_id": "ENSP00000499979.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2210,
"cds_end": null,
"cds_length": 3018,
"cdna_start": 2669,
"cdna_end": null,
"cdna_length": 5730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2033T>G",
"hgvs_p": "p.Val678Gly",
"transcript": "ENST00000672915.1",
"protein_id": "ENSP00000500622.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2033,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 6045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.1826T>G",
"hgvs_p": "p.Val609Gly",
"transcript": "ENST00000612754.2",
"protein_id": "ENSP00000482888.2",
"transcript_support_level": 5,
"aa_start": 609,
"aa_end": null,
"aa_length": 938,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 4810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.1046T>G",
"hgvs_p": "p.Val349Gly",
"transcript": "NM_001386167.1",
"protein_id": "NP_001373096.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 764,
"cds_start": 1046,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1149,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.755T>G",
"hgvs_p": null,
"transcript": "ENST00000508007.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 840,
"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": 39,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.*139T>G",
"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": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.*139T>G",
"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": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.2283T>G",
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.1491T>G",
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.2235T>G",
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.1064T>G",
"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": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.3026T>G",
"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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.1400T>G",
"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": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.7746T>G",
"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": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.2372T>G",
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.356T>G",
"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": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.2790T>G",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.*139T>G",
"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": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.*139T>G",
"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
}
],
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"dbsnp": "rs66785829",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.642415463924408,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.552,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3224,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.5,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000357077.9",
"gene_symbol": "ANK2",
"hgnc_id": 493,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.10901T>G",
"hgvs_p": "p.Val3634Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}