← 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: 10-11321320-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=11321320&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CELF2",
"hgnc_id": 2550,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001326325.2",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CELF2-AS1",
"hgnc_id": 23515,
"hgvs_c": "n.196-2110C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NR_126062.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 44,
"alphamissense_prediction": null,
"alphamissense_score": 0.1522,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.23838666081428528,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 521,
"aa_ref": "A",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9406,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001326342.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1228G>A",
"hgvs_p": "p.Ala410Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000633077.2",
"protein_coding": true,
"protein_id": "NP_001313271.1",
"strand": true,
"transcript": "NM_001326342.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 521,
"aa_ref": "A",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9406,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000633077.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1228G>A",
"hgvs_p": "p.Ala410Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001326342.2",
"protein_coding": true,
"protein_id": "ENSP00000488690.1",
"strand": true,
"transcript": "ENST00000633077.2",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 533,
"aa_ref": "A",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 1388,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1264,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000632065.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1264G>A",
"hgvs_p": "p.Ala422Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000488422.1",
"strand": true,
"transcript": "ENST00000632065.1",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 521,
"aa_ref": "A",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7982,
"cdna_start": 1388,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000542579.5",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1228G>A",
"hgvs_p": "p.Ala410Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443926.1",
"strand": true,
"transcript": "ENST00000542579.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 508,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6894,
"cdna_start": 1256,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000416382.6",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Ala397Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406451.2",
"strand": true,
"transcript": "ENST00000416382.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8044,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000417956.6",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404834.3",
"strand": true,
"transcript": "ENST00000417956.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 488,
"aa_ref": "A",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1892,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000608830.5",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Ala377Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476999.1",
"strand": true,
"transcript": "ENST00000608830.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 539,
"aa_ref": "A",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7933,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1282,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001326325.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313254.1",
"strand": true,
"transcript": "NM_001326325.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 539,
"aa_ref": "A",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9460,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1282,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001326343.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313272.1",
"strand": true,
"transcript": "NM_001326343.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 533,
"aa_ref": "A",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9442,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1264,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001326340.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1264G>A",
"hgvs_p": "p.Ala422Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313269.1",
"strand": true,
"transcript": "NM_001326340.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 532,
"aa_ref": "A",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9297,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1261,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001326336.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1261G>A",
"hgvs_p": "p.Ala421Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313265.1",
"strand": true,
"transcript": "NM_001326336.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 526,
"aa_ref": "A",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7885,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1243,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001326327.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Ala415Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313256.1",
"strand": true,
"transcript": "NM_001326327.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 526,
"aa_ref": "A",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2724,
"cdna_start": 1611,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1243,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000637215.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Ala415Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490185.1",
"strand": true,
"transcript": "ENST00000637215.1",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 525,
"aa_ref": "A",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1771,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000904655.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Ala414Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574714.1",
"strand": true,
"transcript": "ENST00000904655.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 521,
"aa_ref": "A",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8048,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_006561.4",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1228G>A",
"hgvs_p": "p.Ala410Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006552.3",
"strand": true,
"transcript": "NM_006561.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 520,
"aa_ref": "A",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7867,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1225,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001326326.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Ala409Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313255.1",
"strand": true,
"transcript": "NM_001326326.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 520,
"aa_ref": "A",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3908,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1225,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000636488.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Ala409Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489955.1",
"strand": true,
"transcript": "ENST00000636488.1",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 519,
"aa_ref": "A",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8042,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001394518.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381447.1",
"strand": true,
"transcript": "NM_001394518.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 519,
"aa_ref": "A",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9400,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001394519.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381448.1",
"strand": true,
"transcript": "NM_001394519.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 515,
"aa_ref": "A",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8030,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1210,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001326341.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Ala404Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313270.1",
"strand": true,
"transcript": "NM_001326341.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 515,
"aa_ref": "A",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9388,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1210,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001394513.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Ala404Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381442.1",
"strand": true,
"transcript": "NM_001394513.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 515,
"aa_ref": "A",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4028,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1210,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000904654.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Ala404Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574713.1",
"strand": true,
"transcript": "ENST00000904654.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 514,
"aa_ref": "A",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7885,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001326331.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Ala403Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313260.1",
"strand": true,
"transcript": "NM_001326331.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 514,
"aa_ref": "A",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9243,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001394502.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Ala403Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381431.1",
"strand": true,
"transcript": "NM_001394502.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 514,
"aa_ref": "A",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000631816.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Ala403Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000488268.1",
"strand": true,
"transcript": "ENST00000631816.1",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 512,
"aa_ref": "A",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7879,
"cdna_start": 1277,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1201,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001326335.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Ala401Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313264.1",
"strand": true,
"transcript": "NM_001326335.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 508,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9225,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001025077.3",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Ala397Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020248.1",
"strand": true,
"transcript": "NM_001025077.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 508,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9318,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001326319.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Ala397Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313248.1",
"strand": true,
"transcript": "NM_001326319.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 508,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7867,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001326332.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Ala397Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313261.1",
"strand": true,
"transcript": "NM_001326332.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 508,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5538,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000631460.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Ala397Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000488582.1",
"strand": true,
"transcript": "ENST00000631460.1",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 504,
"aa_ref": "A",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8004,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001326323.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Ala393Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313252.1",
"strand": true,
"transcript": "NM_001326323.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 502,
"aa_ref": "A",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1754,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000354897.3",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Ala391Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346971.3",
"strand": true,
"transcript": "ENST00000354897.3",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 498,
"aa_ref": "A",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9250,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1497,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001326321.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Ala387Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313250.1",
"strand": true,
"transcript": "NM_001326321.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 496,
"aa_ref": "A",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 1491,
"cds_start": 1153,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001326347.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1153G>A",
"hgvs_p": "p.Ala385Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313276.1",
"strand": true,
"transcript": "NM_001326347.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8044,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001025076.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020247.1",
"strand": true,
"transcript": "NM_001025076.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9226,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001326318.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313247.1",
"strand": true,
"transcript": "NM_001326318.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7962,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001326320.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313249.1",
"strand": true,
"transcript": "NM_001326320.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7857,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001326324.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313253.1",
"strand": true,
"transcript": "NM_001326324.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7979,
"cdna_start": 1377,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001326328.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313257.1",
"strand": true,
"transcript": "NM_001326328.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9465,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001326330.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313259.1",
"strand": true,
"transcript": "NM_001326330.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9428,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001326334.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313263.1",
"strand": true,
"transcript": "NM_001326334.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7865,
"cdna_start": 1263,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001326345.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313274.1",
"strand": true,
"transcript": "NM_001326345.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9337,
"cdna_start": 1377,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001326349.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313278.1",
"strand": true,
"transcript": "NM_001326349.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7085,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000399850.7",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382743.3",
"strand": true,
"transcript": "ENST00000399850.7",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3827,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000632728.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487802.1",
"strand": true,
"transcript": "ENST00000632728.1",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1849,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000638035.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490401.1",
"strand": true,
"transcript": "ENST00000638035.1",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 488,
"aa_ref": "A",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8038,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001083591.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Ala377Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001077060.1",
"strand": true,
"transcript": "NM_001083591.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 484,
"aa_ref": "A",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9208,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1117,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001326317.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1117G>A",
"hgvs_p": "p.Ala373Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313246.1",
"strand": true,
"transcript": "NM_001326317.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 484,
"aa_ref": "A",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9447,
"cdna_start": 1487,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1117,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001326329.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1117G>A",
"hgvs_p": "p.Ala373Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313258.1",
"strand": true,
"transcript": "NM_001326329.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 484,
"aa_ref": "A",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7769,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1117,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001326344.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1117G>A",
"hgvs_p": "p.Ala373Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313273.1",
"strand": true,
"transcript": "NM_001326344.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 484,
"aa_ref": "A",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7961,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1117,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001326348.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1117G>A",
"hgvs_p": "p.Ala373Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313277.1",
"strand": true,
"transcript": "NM_001326348.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 484,
"aa_ref": "A",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9319,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1117,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001394517.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1117G>A",
"hgvs_p": "p.Ala373Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381446.1",
"strand": true,
"transcript": "NM_001394517.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 440,
"aa_ref": "A",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000609692.5",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Ala377Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476656.1",
"strand": true,
"transcript": "ENST00000609692.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 403,
"aa_ref": "A",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9289,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 1212,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001326339.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Ala292Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313268.1",
"strand": true,
"transcript": "NM_001326339.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 397,
"aa_ref": "A",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9271,
"cdna_start": 1311,
"cds_end": null,
"cds_length": 1194,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001326338.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Ala286Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313267.1",
"strand": true,
"transcript": "NM_001326338.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 286,
"aa_ref": "A",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9163,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 861,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001326333.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313262.1",
"strand": true,
"transcript": "NM_001326333.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 280,
"aa_ref": "A",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7798,
"cdna_start": 1196,
"cds_end": null,
"cds_length": 843,
"cds_start": 505,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001326346.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313275.1",
"strand": true,
"transcript": "NM_001326346.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 549,
"aa_ref": "A",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7963,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1312,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047424482.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Ala438Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280438.1",
"strand": true,
"transcript": "XM_047424482.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 545,
"aa_ref": "A",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7951,
"cdna_start": 1349,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1300,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047424483.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1300G>A",
"hgvs_p": "p.Ala434Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280439.1",
"strand": true,
"transcript": "XM_047424483.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "A",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7976,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047424484.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Ala419Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280440.1",
"strand": true,
"transcript": "XM_047424484.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "A",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8017,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047424485.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Ala419Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280441.1",
"strand": true,
"transcript": "XM_047424485.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 525,
"aa_ref": "A",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8060,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047424486.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Ala414Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280442.1",
"strand": true,
"transcript": "XM_047424486.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 524,
"aa_ref": "A",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7879,
"cdna_start": 1277,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047424487.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Ala413Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280443.1",
"strand": true,
"transcript": "XM_047424487.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 518,
"aa_ref": "A",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7897,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1219,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_024447776.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Ala407Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303544.1",
"strand": true,
"transcript": "XM_024447776.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 494,
"aa_ref": "A",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8056,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047424489.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Ala383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280445.1",
"strand": true,
"transcript": "XM_047424489.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 494,
"aa_ref": "A",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7880,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047424490.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Ala383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280446.1",
"strand": true,
"transcript": "XM_047424490.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 494,
"aa_ref": "A",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7991,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047424491.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Ala383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280447.1",
"strand": true,
"transcript": "XM_047424491.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 494,
"aa_ref": "A",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8029,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047424492.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Ala383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280448.1",
"strand": true,
"transcript": "XM_047424492.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 494,
"aa_ref": "A",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7946,
"cdna_start": 1344,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047424493.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Ala383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280449.1",
"strand": true,
"transcript": "XM_047424493.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 494,
"aa_ref": "A",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8012,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047424494.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Ala383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280450.1",
"strand": true,
"transcript": "XM_047424494.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 494,
"aa_ref": "A",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8026,
"cdna_start": 1424,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047424495.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Ala383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280451.1",
"strand": true,
"transcript": "XM_047424495.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 494,
"aa_ref": "A",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7907,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047424496.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Ala383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280452.1",
"strand": true,
"transcript": "XM_047424496.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 494,
"aa_ref": "A",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7877,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047424498.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Ala383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280454.1",
"strand": true,
"transcript": "XM_047424498.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 494,
"aa_ref": "A",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7935,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047424499.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Ala383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280455.1",
"strand": true,
"transcript": "XM_047424499.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 494,
"aa_ref": "A",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7833,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047424500.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Ala383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280456.1",
"strand": true,
"transcript": "XM_047424500.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7868,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047424501.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280457.1",
"strand": true,
"transcript": "XM_047424501.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7960,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047424502.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280458.1",
"strand": true,
"transcript": "XM_047424502.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "A",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9202,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047424503.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280459.1",
"strand": true,
"transcript": "XM_047424503.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 488,
"aa_ref": "A",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7850,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047424504.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Ala377Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280460.1",
"strand": true,
"transcript": "XM_047424504.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 484,
"aa_ref": "A",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7864,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1117,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047424505.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1117G>A",
"hgvs_p": "p.Ala373Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280461.1",
"strand": true,
"transcript": "XM_047424505.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 407,
"aa_ref": "A",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7685,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 1224,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047424509.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Ala296Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280465.1",
"strand": true,
"transcript": "XM_047424509.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 290,
"aa_ref": "A",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7333,
"cdna_start": 731,
"cds_end": null,
"cds_length": 873,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047424510.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Ala179Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280466.1",
"strand": true,
"transcript": "XM_047424510.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 452,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7699,
"cdna_start": null,
"cds_end": null,
"cds_length": 1359,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001326337.2",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1088-4516G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313266.1",
"strand": true,
"transcript": "NM_001326337.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 464,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9057,
"cdna_start": null,
"cds_end": null,
"cds_length": 1395,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047424506.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1124-4516G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280462.1",
"strand": true,
"transcript": "XM_047424506.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 459,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7862,
"cdna_start": null,
"cds_end": null,
"cds_length": 1380,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047424507.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1109-4516G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280463.1",
"strand": true,
"transcript": "XM_047424507.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 428,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7606,
"cdna_start": null,
"cds_end": null,
"cds_length": 1287,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047424488.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.1016-4516G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280444.1",
"strand": true,
"transcript": "XM_047424488.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1549,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000609870.5",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "n.*741G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476392.1",
"strand": true,
"transcript": "ENST00000609870.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1549,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000609870.5",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "n.*741G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476392.1",
"strand": true,
"transcript": "ENST00000609870.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 644,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000846152.1",
"gene_hgnc_id": 23515,
"gene_symbol": "CELF2-AS1",
"hgvs_c": "n.220+23258C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000846152.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 757,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000846153.1",
"gene_hgnc_id": 23515,
"gene_symbol": "CELF2-AS1",
"hgvs_c": "n.223-5226C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000846153.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 825,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000846154.1",
"gene_hgnc_id": 23515,
"gene_symbol": "CELF2-AS1",
"hgvs_c": "n.299+2250C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000846154.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 669,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000846155.1",
"gene_hgnc_id": 23515,
"gene_symbol": "CELF2-AS1",
"hgvs_c": "n.277+2250C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000846155.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 551,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000846156.1",
"gene_hgnc_id": 23515,
"gene_symbol": "CELF2-AS1",
"hgvs_c": "n.163-2644C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000846156.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 753,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000846157.1",
"gene_hgnc_id": 23515,
"gene_symbol": "CELF2-AS1",
"hgvs_c": "n.264-2110C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000846157.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 479,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000846158.1",
"gene_hgnc_id": 23515,
"gene_symbol": "CELF2-AS1",
"hgvs_c": "n.317-616C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000846158.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2573,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_126062.1",
"gene_hgnc_id": 23515,
"gene_symbol": "CELF2-AS1",
"hgvs_c": "n.196-2110C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_126062.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 356,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1395,
"cdna_start": null,
"cds_end": null,
"cds_length": 1071,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047424508.1",
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"hgvs_c": "c.*408G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280464.1",
"strand": true,
"transcript": "XM_047424508.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs755910221",
"effect": "missense_variant",
"frequency_reference_population": 0.000027284792,
"gene_hgnc_id": 2550,
"gene_symbol": "CELF2",
"gnomad_exomes_ac": 37,
"gnomad_exomes_af": 0.0000253334,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 7,
"gnomad_genomes_af": 0.0000460224,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.937,
"pos": 11321320,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.187,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001326325.2"
}
]
}