← 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: 6-130865558-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=130865558&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 130865558,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001350299.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2807C>T",
"hgvs_p": "p.Thr936Met",
"transcript": "NM_001431.4",
"protein_id": "NP_001422.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2807,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337057.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001431.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2807C>T",
"hgvs_p": "p.Thr936Met",
"transcript": "ENST00000337057.8",
"protein_id": "ENSP00000338481.3",
"transcript_support_level": 1,
"aa_start": 936,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2807,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001431.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337057.8"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Thr678Met",
"transcript": "ENST00000528282.5",
"protein_id": "ENSP00000434308.1",
"transcript_support_level": 1,
"aa_start": 678,
"aa_end": null,
"aa_length": 747,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528282.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Thr314Met",
"transcript": "ENST00000524581.5",
"protein_id": "ENSP00000437207.1",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 383,
"cds_start": 941,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524581.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.1834-1840C>T",
"hgvs_p": null,
"transcript": "ENST00000392427.7",
"protein_id": "ENSP00000376222.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": null,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392427.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "n.1526C>T",
"hgvs_p": null,
"transcript": "ENST00000452150.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000452150.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2963C>T",
"hgvs_p": "p.Thr988Met",
"transcript": "NM_001350299.2",
"protein_id": "NP_001337228.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350299.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2963C>T",
"hgvs_p": "p.Thr988Met",
"transcript": "ENST00000706365.1",
"protein_id": "ENSP00000516350.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706365.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2936C>T",
"hgvs_p": "p.Thr979Met",
"transcript": "ENST00000922900.1",
"protein_id": "ENSP00000592959.1",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1048,
"cds_start": 2936,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922900.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2909C>T",
"hgvs_p": "p.Thr970Met",
"transcript": "ENST00000904972.1",
"protein_id": "ENSP00000575031.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904972.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2909C>T",
"hgvs_p": "p.Thr970Met",
"transcript": "ENST00000904992.1",
"protein_id": "ENSP00000575051.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904992.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2900C>T",
"hgvs_p": "p.Thr967Met",
"transcript": "ENST00000922891.1",
"protein_id": "ENSP00000592950.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2900,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922891.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2900C>T",
"hgvs_p": "p.Thr967Met",
"transcript": "ENST00000922899.1",
"protein_id": "ENSP00000592958.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2900,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922899.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2861C>T",
"hgvs_p": "p.Thr954Met",
"transcript": "ENST00000904970.1",
"protein_id": "ENSP00000575029.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2861,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904970.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2861C>T",
"hgvs_p": "p.Thr954Met",
"transcript": "ENST00000904976.1",
"protein_id": "ENSP00000575035.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2861,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904976.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2861C>T",
"hgvs_p": "p.Thr954Met",
"transcript": "ENST00000904997.1",
"protein_id": "ENSP00000575056.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2861,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904997.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2807C>T",
"hgvs_p": "p.Thr936Met",
"transcript": "NM_001350302.2",
"protein_id": "NP_001337231.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2807,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350302.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2807C>T",
"hgvs_p": "p.Thr936Met",
"transcript": "ENST00000368128.6",
"protein_id": "ENSP00000357110.2",
"transcript_support_level": 5,
"aa_start": 936,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2807,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368128.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2807C>T",
"hgvs_p": "p.Thr936Met",
"transcript": "ENST00000904971.1",
"protein_id": "ENSP00000575030.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2807,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904971.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2807C>T",
"hgvs_p": "p.Thr936Met",
"transcript": "ENST00000904989.1",
"protein_id": "ENSP00000575048.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2807,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904989.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2807C>T",
"hgvs_p": "p.Thr936Met",
"transcript": "ENST00000905001.1",
"protein_id": "ENSP00000575060.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2807,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905001.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2807C>T",
"hgvs_p": "p.Thr936Met",
"transcript": "ENST00000969086.1",
"protein_id": "ENSP00000639145.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2807,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969086.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2780C>T",
"hgvs_p": "p.Thr927Met",
"transcript": "ENST00000904978.1",
"protein_id": "ENSP00000575037.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 996,
"cds_start": 2780,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904978.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2744C>T",
"hgvs_p": "p.Thr915Met",
"transcript": "ENST00000904979.1",
"protein_id": "ENSP00000575038.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 984,
"cds_start": 2744,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904979.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2714C>T",
"hgvs_p": "p.Thr905Met",
"transcript": "ENST00000904973.1",
"protein_id": "ENSP00000575032.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 974,
"cds_start": 2714,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904973.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2714C>T",
"hgvs_p": "p.Thr905Met",
"transcript": "ENST00000904985.1",
"protein_id": "ENSP00000575044.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 974,
"cds_start": 2714,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904985.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2702C>T",
"hgvs_p": "p.Thr901Met",
"transcript": "ENST00000969084.1",
"protein_id": "ENSP00000639143.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 970,
"cds_start": 2702,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969084.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2699C>T",
"hgvs_p": "p.Thr900Met",
"transcript": "ENST00000922896.1",
"protein_id": "ENSP00000592955.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 969,
"cds_start": 2699,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922896.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2687C>T",
"hgvs_p": "p.Thr896Met",
"transcript": "ENST00000922897.1",
"protein_id": "ENSP00000592956.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 965,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922897.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2660C>T",
"hgvs_p": "p.Thr887Met",
"transcript": "NM_001350303.2",
"protein_id": "NP_001337232.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 956,
"cds_start": 2660,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350303.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2660C>T",
"hgvs_p": "p.Thr887Met",
"transcript": "ENST00000904993.1",
"protein_id": "ENSP00000575052.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 956,
"cds_start": 2660,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904993.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2660C>T",
"hgvs_p": "p.Thr887Met",
"transcript": "ENST00000904999.1",
"protein_id": "ENSP00000575058.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 956,
"cds_start": 2660,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904999.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2651C>T",
"hgvs_p": "p.Thr884Met",
"transcript": "ENST00000904996.1",
"protein_id": "ENSP00000575055.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 953,
"cds_start": 2651,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904996.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2651C>T",
"hgvs_p": "p.Thr884Met",
"transcript": "ENST00000922888.1",
"protein_id": "ENSP00000592947.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 953,
"cds_start": 2651,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922888.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2651C>T",
"hgvs_p": "p.Thr884Met",
"transcript": "ENST00000922894.1",
"protein_id": "ENSP00000592953.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 953,
"cds_start": 2651,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922894.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2651C>T",
"hgvs_p": "p.Thr884Met",
"transcript": "ENST00000969085.1",
"protein_id": "ENSP00000639144.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 953,
"cds_start": 2651,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969085.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2633C>T",
"hgvs_p": "p.Thr878Met",
"transcript": "ENST00000904980.1",
"protein_id": "ENSP00000575039.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 947,
"cds_start": 2633,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904980.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2597C>T",
"hgvs_p": "p.Thr866Met",
"transcript": "NM_001350304.2",
"protein_id": "NP_001337233.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 935,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350304.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2597C>T",
"hgvs_p": "p.Thr866Met",
"transcript": "NM_001350305.2",
"protein_id": "NP_001337234.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 935,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350305.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2597C>T",
"hgvs_p": "p.Thr866Met",
"transcript": "NM_001350306.2",
"protein_id": "NP_001337235.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 935,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350306.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2597C>T",
"hgvs_p": "p.Thr866Met",
"transcript": "ENST00000527411.5",
"protein_id": "ENSP00000436348.1",
"transcript_support_level": 5,
"aa_start": 866,
"aa_end": null,
"aa_length": 935,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527411.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2597C>T",
"hgvs_p": "p.Thr866Met",
"transcript": "ENST00000529208.5",
"protein_id": "ENSP00000436641.1",
"transcript_support_level": 5,
"aa_start": 866,
"aa_end": null,
"aa_length": 935,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529208.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2597C>T",
"hgvs_p": "p.Thr866Met",
"transcript": "ENST00000628542.2",
"protein_id": "ENSP00000486691.1",
"transcript_support_level": 5,
"aa_start": 866,
"aa_end": null,
"aa_length": 935,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628542.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2597C>T",
"hgvs_p": "p.Thr866Met",
"transcript": "ENST00000904968.1",
"protein_id": "ENSP00000575027.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 935,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904968.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2597C>T",
"hgvs_p": "p.Thr866Met",
"transcript": "ENST00000922892.1",
"protein_id": "ENSP00000592951.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 935,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922892.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2597C>T",
"hgvs_p": "p.Thr866Met",
"transcript": "ENST00000969083.1",
"protein_id": "ENSP00000639142.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 935,
"cds_start": 2597,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969083.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2570C>T",
"hgvs_p": "p.Thr857Met",
"transcript": "ENST00000904983.1",
"protein_id": "ENSP00000575042.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 926,
"cds_start": 2570,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904983.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2570C>T",
"hgvs_p": "p.Thr857Met",
"transcript": "ENST00000922889.1",
"protein_id": "ENSP00000592948.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 926,
"cds_start": 2570,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922889.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2558C>T",
"hgvs_p": "p.Thr853Met",
"transcript": "ENST00000904981.1",
"protein_id": "ENSP00000575040.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 922,
"cds_start": 2558,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904981.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2558C>T",
"hgvs_p": "p.Thr853Met",
"transcript": "ENST00000904987.1",
"protein_id": "ENSP00000575046.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 922,
"cds_start": 2558,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904987.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2558C>T",
"hgvs_p": "p.Thr853Met",
"transcript": "ENST00000904991.1",
"protein_id": "ENSP00000575050.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 922,
"cds_start": 2558,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904991.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2492C>T",
"hgvs_p": "p.Thr831Met",
"transcript": "ENST00000922890.1",
"protein_id": "ENSP00000592949.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 900,
"cds_start": 2492,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922890.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2474C>T",
"hgvs_p": "p.Thr825Met",
"transcript": "ENST00000904998.1",
"protein_id": "ENSP00000575057.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 894,
"cds_start": 2474,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904998.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2402C>T",
"hgvs_p": "p.Thr801Met",
"transcript": "NM_001350307.2",
"protein_id": "NP_001337236.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 870,
"cds_start": 2402,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350307.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2402C>T",
"hgvs_p": "p.Thr801Met",
"transcript": "ENST00000904974.1",
"protein_id": "ENSP00000575033.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 870,
"cds_start": 2402,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904974.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2402C>T",
"hgvs_p": "p.Thr801Met",
"transcript": "ENST00000904986.1",
"protein_id": "ENSP00000575045.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 870,
"cds_start": 2402,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904986.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2348C>T",
"hgvs_p": "p.Thr783Met",
"transcript": "NM_001199388.3",
"protein_id": "NP_001186317.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 852,
"cds_start": 2348,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199388.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2348C>T",
"hgvs_p": "p.Thr783Met",
"transcript": "NM_001350308.2",
"protein_id": "NP_001337237.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 852,
"cds_start": 2348,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350308.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2348C>T",
"hgvs_p": "p.Thr783Met",
"transcript": "NM_001350309.1",
"protein_id": "NP_001337238.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 852,
"cds_start": 2348,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350309.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2348C>T",
"hgvs_p": "p.Thr783Met",
"transcript": "NM_001350310.2",
"protein_id": "NP_001337239.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 852,
"cds_start": 2348,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350310.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2348C>T",
"hgvs_p": "p.Thr783Met",
"transcript": "ENST00000530481.5",
"protein_id": "ENSP00000434576.1",
"transcript_support_level": 2,
"aa_start": 783,
"aa_end": null,
"aa_length": 852,
"cds_start": 2348,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530481.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2348C>T",
"hgvs_p": "p.Thr783Met",
"transcript": "ENST00000904966.1",
"protein_id": "ENSP00000575025.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 852,
"cds_start": 2348,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904966.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2348C>T",
"hgvs_p": "p.Thr783Met",
"transcript": "ENST00000904995.1",
"protein_id": "ENSP00000575054.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 852,
"cds_start": 2348,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904995.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2270C>T",
"hgvs_p": "p.Thr757Met",
"transcript": "ENST00000904988.1",
"protein_id": "ENSP00000575047.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 826,
"cds_start": 2270,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904988.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2255C>T",
"hgvs_p": "p.Thr752Met",
"transcript": "ENST00000904967.1",
"protein_id": "ENSP00000575026.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 821,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904967.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2243C>T",
"hgvs_p": "p.Thr748Met",
"transcript": "ENST00000904994.1",
"protein_id": "ENSP00000575053.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 817,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904994.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2225C>T",
"hgvs_p": "p.Thr742Met",
"transcript": "ENST00000527659.5",
"protein_id": "ENSP00000431647.1",
"transcript_support_level": 5,
"aa_start": 742,
"aa_end": null,
"aa_length": 811,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527659.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2117C>T",
"hgvs_p": "p.Thr706Met",
"transcript": "ENST00000904984.1",
"protein_id": "ENSP00000575043.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 775,
"cds_start": 2117,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904984.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Thr678Met",
"transcript": "NM_001252660.2",
"protein_id": "NP_001239589.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 747,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252660.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Thr678Met",
"transcript": "NM_001350311.2",
"protein_id": "NP_001337240.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 747,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350311.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Thr678Met",
"transcript": "NM_001350312.2",
"protein_id": "NP_001337241.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 747,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350312.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Thr678Met",
"transcript": "NM_001350313.2",
"protein_id": "NP_001337242.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 747,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350313.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Thr678Met",
"transcript": "ENST00000445890.6",
"protein_id": "ENSP00000402041.2",
"transcript_support_level": 5,
"aa_start": 678,
"aa_end": null,
"aa_length": 747,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445890.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Thr678Met",
"transcript": "ENST00000904969.1",
"protein_id": "ENSP00000575028.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 747,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904969.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Thr678Met",
"transcript": "ENST00000904990.1",
"protein_id": "ENSP00000575049.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 747,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904990.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.1973C>T",
"hgvs_p": "p.Thr658Met",
"transcript": "ENST00000969082.1",
"protein_id": "ENSP00000639141.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 727,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969082.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Thr637Met",
"transcript": "NM_001350314.2",
"protein_id": "NP_001337243.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 706,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350314.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Thr637Met",
"transcript": "NM_001350315.2",
"protein_id": "NP_001337244.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 706,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350315.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Thr637Met",
"transcript": "ENST00000525193.5",
"protein_id": "ENSP00000431988.1",
"transcript_support_level": 5,
"aa_start": 637,
"aa_end": null,
"aa_length": 706,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525193.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.1484C>T",
"hgvs_p": "p.Thr495Met",
"transcript": "ENST00000904977.1",
"protein_id": "ENSP00000575036.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 564,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904977.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.1391C>T",
"hgvs_p": "p.Thr464Met",
"transcript": "NM_001350320.2",
"protein_id": "NP_001337249.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 533,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350320.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Thr200Met",
"transcript": "ENST00000527017.6",
"protein_id": "ENSP00000432949.1",
"transcript_support_level": 5,
"aa_start": 200,
"aa_end": null,
"aa_length": 239,
"cds_start": 599,
"cds_end": null,
"cds_length": 721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527017.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met",
"transcript": "ENST00000531410.5",
"protein_id": "ENSP00000434596.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 126,
"cds_start": 170,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531410.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2887-1840C>T",
"hgvs_p": null,
"transcript": "NM_001350301.2",
"protein_id": "NP_001337230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": null,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350301.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2575-1840C>T",
"hgvs_p": null,
"transcript": "ENST00000922898.1",
"protein_id": "ENSP00000592957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": null,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922898.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2521-1840C>T",
"hgvs_p": null,
"transcript": "ENST00000922887.1",
"protein_id": "ENSP00000592946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 902,
"cds_start": null,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922887.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2521-1840C>T",
"hgvs_p": null,
"transcript": "ENST00000922893.1",
"protein_id": "ENSP00000592952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 902,
"cds_start": null,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922893.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2326-1840C>T",
"hgvs_p": null,
"transcript": "ENST00000904975.1",
"protein_id": "ENSP00000575034.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": null,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904975.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2272-1840C>T",
"hgvs_p": null,
"transcript": "ENST00000922901.1",
"protein_id": "ENSP00000592960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 819,
"cds_start": null,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922901.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.2149-1840C>T",
"hgvs_p": null,
"transcript": "ENST00000922895.1",
"protein_id": "ENSP00000592954.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": null,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922895.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.1834-1840C>T",
"hgvs_p": null,
"transcript": "NM_001135554.2",
"protein_id": "NP_001129026.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": null,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135554.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.1834-1840C>T",
"hgvs_p": null,
"transcript": "NM_001135555.4",
"protein_id": "NP_001129027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": null,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135555.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.1834-1840C>T",
"hgvs_p": null,
"transcript": "ENST00000525271.5",
"protein_id": "ENSP00000432803.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": null,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525271.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.1834-1840C>T",
"hgvs_p": null,
"transcript": "ENST00000905000.1",
"protein_id": "ENSP00000575059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": null,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905000.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.1834-7315C>T",
"hgvs_p": null,
"transcript": "ENST00000904982.1",
"protein_id": "ENSP00000575041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904982.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.418-1840C>T",
"hgvs_p": null,
"transcript": "ENST00000530757.5",
"protein_id": "ENSP00000436349.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530757.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "n.276C>T",
"hgvs_p": null,
"transcript": "ENST00000368126.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000368126.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "n.1220-1840C>T",
"hgvs_p": null,
"transcript": "NR_146620.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146620.2"
}
],
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"dbsnp": "rs199859070",
"frequency_reference_population": 0.000015488258,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000136812,
"gnomad_genomes_af": 0.0000328377,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8027113676071167,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.763,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3211,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.576,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.15,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001350299.2",
"gene_symbol": "EPB41L2",
"hgnc_id": 3379,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2963C>T",
"hgvs_p": "p.Thr988Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}