← 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: 17-62520815-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=62520815&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 62520815,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001284333.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "NM_006852.6",
"protein_id": "NP_006843.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 750,
"cds_start": 124,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000346027.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006852.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000346027.10",
"protein_id": "ENSP00000275780.7",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 750,
"cds_start": 124,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006852.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346027.10"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000326270.13",
"protein_id": "ENSP00000316512.9",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 772,
"cds_start": 124,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326270.13"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000343388.11",
"protein_id": "ENSP00000340800.7",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 718,
"cds_start": 124,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343388.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.-324G>A",
"hgvs_p": null,
"transcript": "ENST00000582809.5",
"protein_id": "ENSP00000463595.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": null,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582809.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "NM_001284333.3",
"protein_id": "NP_001271262.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 772,
"cds_start": 124,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284333.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000902353.1",
"protein_id": "ENSP00000572412.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 772,
"cds_start": 124,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902353.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Ile",
"transcript": "NM_001375269.1",
"protein_id": "NP_001362198.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 764,
"cds_start": 262,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375269.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "NM_001375270.1",
"protein_id": "NP_001362199.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 750,
"cds_start": 124,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375270.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "NM_001375271.1",
"protein_id": "NP_001362200.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 750,
"cds_start": 124,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375271.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000682085.1",
"protein_id": "ENSP00000506744.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 750,
"cds_start": 124,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682085.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000902350.1",
"protein_id": "ENSP00000572409.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 750,
"cds_start": 124,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902350.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000902351.1",
"protein_id": "ENSP00000572410.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 750,
"cds_start": 124,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902351.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000902354.1",
"protein_id": "ENSP00000572413.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 750,
"cds_start": 124,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902354.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000902355.1",
"protein_id": "ENSP00000572414.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 750,
"cds_start": 124,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902355.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000963456.1",
"protein_id": "ENSP00000633515.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 750,
"cds_start": 124,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963456.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000963463.1",
"protein_id": "ENSP00000633522.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 750,
"cds_start": 124,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963463.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000963464.1",
"protein_id": "ENSP00000633523.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 749,
"cds_start": 124,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963464.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000963467.1",
"protein_id": "ENSP00000633526.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 749,
"cds_start": 124,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963467.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000931875.1",
"protein_id": "ENSP00000601934.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 740,
"cds_start": 124,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931875.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000931880.1",
"protein_id": "ENSP00000601939.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 740,
"cds_start": 124,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931880.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000931879.1",
"protein_id": "ENSP00000601938.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 720,
"cds_start": 124,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931879.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000963465.1",
"protein_id": "ENSP00000633524.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 720,
"cds_start": 124,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963465.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000963459.1",
"protein_id": "ENSP00000633518.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 719,
"cds_start": 124,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963459.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "NM_001284363.1",
"protein_id": "NP_001271292.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 718,
"cds_start": 124,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284363.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "NM_001375272.1",
"protein_id": "NP_001362201.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 718,
"cds_start": 124,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375272.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "NM_001438203.1",
"protein_id": "NP_001425132.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 718,
"cds_start": 124,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438203.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "NM_001438204.1",
"protein_id": "NP_001425133.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 718,
"cds_start": 124,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438204.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000683104.1",
"protein_id": "ENSP00000508242.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 718,
"cds_start": 124,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683104.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000902349.1",
"protein_id": "ENSP00000572408.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 718,
"cds_start": 124,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902349.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000902352.1",
"protein_id": "ENSP00000572411.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 718,
"cds_start": 124,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902352.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000931871.1",
"protein_id": "ENSP00000601930.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 718,
"cds_start": 124,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931871.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000963468.1",
"protein_id": "ENSP00000633527.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 718,
"cds_start": 124,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963468.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000931872.1",
"protein_id": "ENSP00000601931.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 713,
"cds_start": 124,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931872.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000963466.1",
"protein_id": "ENSP00000633525.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 690,
"cds_start": 124,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963466.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000931873.1",
"protein_id": "ENSP00000601932.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 688,
"cds_start": 124,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931873.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000963455.1",
"protein_id": "ENSP00000633514.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 688,
"cds_start": 124,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963455.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "NM_001438205.1",
"protein_id": "NP_001425134.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 687,
"cds_start": 124,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438205.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000684012.1",
"protein_id": "ENSP00000507902.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 687,
"cds_start": 124,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684012.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000684440.1",
"protein_id": "ENSP00000507712.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 687,
"cds_start": 124,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684440.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000963457.1",
"protein_id": "ENSP00000633516.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 687,
"cds_start": 124,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963457.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000963460.1",
"protein_id": "ENSP00000633519.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 687,
"cds_start": 124,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963460.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000963461.1",
"protein_id": "ENSP00000633520.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 687,
"cds_start": 124,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963461.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000684553.1",
"protein_id": "ENSP00000507681.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 681,
"cds_start": 124,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684553.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000931876.1",
"protein_id": "ENSP00000601935.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 667,
"cds_start": 124,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931876.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000682075.1",
"protein_id": "ENSP00000506988.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 662,
"cds_start": 124,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682075.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000963469.1",
"protein_id": "ENSP00000633528.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 662,
"cds_start": 124,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963469.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000931877.1",
"protein_id": "ENSP00000601936.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 658,
"cds_start": 124,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931877.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "NM_001411074.1",
"protein_id": "NP_001398003.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 655,
"cds_start": 124,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411074.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000684772.1",
"protein_id": "ENSP00000507724.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 655,
"cds_start": 124,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684772.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000931874.1",
"protein_id": "ENSP00000601933.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 655,
"cds_start": 124,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931874.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000931878.1",
"protein_id": "ENSP00000601937.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 655,
"cds_start": 124,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931878.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000963458.1",
"protein_id": "ENSP00000633517.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 615,
"cds_start": 124,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963458.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000963462.1",
"protein_id": "ENSP00000633521.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 615,
"cds_start": 124,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963462.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000581041.5",
"protein_id": "ENSP00000462036.1",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 592,
"cds_start": 124,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581041.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000580705.5",
"protein_id": "ENSP00000464516.1",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 175,
"cds_start": 124,
"cds_end": null,
"cds_length": 529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580705.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "ENST00000579450.5",
"protein_id": "ENSP00000464557.1",
"transcript_support_level": 4,
"aa_start": 42,
"aa_end": null,
"aa_length": 71,
"cds_start": 124,
"cds_end": null,
"cds_length": 218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579450.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Val89Ile",
"transcript": "XM_047435174.1",
"protein_id": "XP_047291130.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 819,
"cds_start": 265,
"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": "XM_047435174.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Ile",
"transcript": "XM_047435175.1",
"protein_id": "XP_047291131.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 818,
"cds_start": 262,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435175.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Val89Ile",
"transcript": "XM_047435176.1",
"protein_id": "XP_047291132.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 797,
"cds_start": 265,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435176.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Ile",
"transcript": "XM_017024044.2",
"protein_id": "XP_016879533.2",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 796,
"cds_start": 262,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024044.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Val89Ile",
"transcript": "XM_011524215.3",
"protein_id": "XP_011522517.2",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 788,
"cds_start": 265,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524215.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Val89Ile",
"transcript": "XM_047435177.1",
"protein_id": "XP_047291133.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 787,
"cds_start": 265,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435177.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Val49Ile",
"transcript": "XM_024450552.2",
"protein_id": "XP_024306320.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 779,
"cds_start": 145,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450552.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "XM_011524216.3",
"protein_id": "XP_011522518.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 772,
"cds_start": 124,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524216.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "XM_011524222.4",
"protein_id": "XP_011522524.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 772,
"cds_start": 124,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524222.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "XM_024450553.2",
"protein_id": "XP_024306321.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 772,
"cds_start": 124,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450553.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Val89Ile",
"transcript": "XM_011524218.3",
"protein_id": "XP_011522520.2",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 766,
"cds_start": 265,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524218.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Val89Ile",
"transcript": "XM_047435178.1",
"protein_id": "XP_047291134.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 765,
"cds_start": 265,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435178.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Val89Ile",
"transcript": "XM_011524220.3",
"protein_id": "XP_011522522.2",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 756,
"cds_start": 265,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524220.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "XM_047435179.1",
"protein_id": "XP_047291135.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 750,
"cds_start": 124,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435179.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "XM_011524221.3",
"protein_id": "XP_011522523.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 740,
"cds_start": 124,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524221.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "XM_017024048.3",
"protein_id": "XP_016879537.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 740,
"cds_start": 124,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024048.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "XM_017024049.3",
"protein_id": "XP_016879538.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 740,
"cds_start": 124,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024049.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "XM_047435180.1",
"protein_id": "XP_047291136.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 740,
"cds_start": 124,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435180.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Val89Ile",
"transcript": "XM_047435181.1",
"protein_id": "XP_047291137.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 734,
"cds_start": 265,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435181.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Ile",
"transcript": "XM_017024050.2",
"protein_id": "XP_016879539.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 733,
"cds_start": 262,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024050.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "XM_047435182.1",
"protein_id": "XP_047291138.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 718,
"cds_start": 124,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435182.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "XM_011524223.4",
"protein_id": "XP_011522525.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 709,
"cds_start": 124,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524223.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "XM_047435183.1",
"protein_id": "XP_047291139.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 709,
"cds_start": 124,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435183.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "XM_047435185.1",
"protein_id": "XP_047291141.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 687,
"cds_start": 124,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435185.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile",
"transcript": "XM_017024055.3",
"protein_id": "XP_016879544.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 655,
"cds_start": 124,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024055.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Val89Ile",
"transcript": "XM_011524231.2",
"protein_id": "XP_011522533.2",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 564,
"cds_start": 265,
"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": "XM_011524231.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.-228G>A",
"hgvs_p": null,
"transcript": "NM_001330418.3",
"protein_id": "NP_001317347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": null,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330418.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.-228G>A",
"hgvs_p": null,
"transcript": "NM_001375273.1",
"protein_id": "NP_001362202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": null,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375273.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.-228G>A",
"hgvs_p": null,
"transcript": "ENST00000682203.1",
"protein_id": "ENSP00000507584.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": null,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682203.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.-324G>A",
"hgvs_p": null,
"transcript": "ENST00000683536.1",
"protein_id": "ENSP00000508315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": null,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683536.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.-228G>A",
"hgvs_p": null,
"transcript": "ENST00000684213.1",
"protein_id": "ENSP00000507880.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"cds_end": null,
"cds_length": 245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684213.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.-228G>A",
"hgvs_p": null,
"transcript": "ENST00000583843.5",
"protein_id": "ENSP00000463814.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 39,
"cds_start": null,
"cds_end": null,
"cds_length": 122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583843.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.-49G>A",
"hgvs_p": null,
"transcript": "XM_011524226.3",
"protein_id": "XP_011522528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": null,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524226.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.-49G>A",
"hgvs_p": null,
"transcript": "XM_011524227.3",
"protein_id": "XP_011522529.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": null,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524227.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.-49G>A",
"hgvs_p": null,
"transcript": "XM_047435186.1",
"protein_id": "XP_047291142.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": null,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435186.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "c.-49G>A",
"hgvs_p": null,
"transcript": "XM_047435187.1",
"protein_id": "XP_047291143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": null,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435187.1"
},
{
"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": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "n.443G>A",
"hgvs_p": null,
"transcript": "ENST00000582195.6",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000582195.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "n.*180G>A",
"hgvs_p": null,
"transcript": "ENST00000583690.6",
"protein_id": "ENSP00000463986.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000583690.6"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "n.124G>A",
"hgvs_p": null,
"transcript": "ENST00000682274.1",
"protein_id": "ENSP00000507636.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000682274.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "n.124G>A",
"hgvs_p": null,
"transcript": "ENST00000682827.1",
"protein_id": "ENSP00000507567.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000682827.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "n.112G>A",
"hgvs_p": null,
"transcript": "ENST00000683737.1",
"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": "retained_intron",
"feature": "ENST00000683737.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"hgvs_c": "n.*180G>A",
"hgvs_p": null,
"transcript": "ENST00000583690.6",
"protein_id": "ENSP00000463986.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000583690.6"
}
],
"gene_symbol": "TLK2",
"gene_hgnc_id": 11842,
"dbsnp": "rs913000214",
"frequency_reference_population": 0.0000043397345,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410619,
"gnomad_genomes_af": 0.00000658796,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1801776885986328,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.333,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0844,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.401,
"phylop100way_prediction": "Uncertain_significance",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 6,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001284333.3",
"gene_symbol": "TLK2",
"hgnc_id": 11842,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Ile"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}