← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 4-153295323-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=153295323&ref=C&alt=A&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "4",
"pos": 153295323,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000338700.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.797C>A",
"hgvs_p": "p.Ser266*",
"transcript": "NM_015271.5",
"protein_id": "NP_056086.2",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 771,
"cds_start": 797,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 6755,
"mane_select": "ENST00000338700.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.797C>A",
"hgvs_p": "p.Ser266*",
"transcript": "ENST00000338700.10",
"protein_id": "ENSP00000339659.5",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 771,
"cds_start": 797,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 6755,
"mane_select": "NM_015271.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000675838.1",
"protein_id": "ENSP00000501593.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 898,
"cds_start": 716,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000437508.7",
"protein_id": "ENSP00000415812.2",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000494872.6",
"protein_id": "ENSP00000488229.2",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 681,
"cds_start": 716,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000675079.1",
"protein_id": "ENSP00000502677.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 902,
"cds_start": 716,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 3962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000674967.1",
"protein_id": "ENSP00000501627.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 898,
"cds_start": 716,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 2981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.890C>A",
"hgvs_p": "p.Ser297*",
"transcript": "NM_001375488.1",
"protein_id": "NP_001362417.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 802,
"cds_start": 890,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.887C>A",
"hgvs_p": "p.Ser296*",
"transcript": "NM_001375489.1",
"protein_id": "NP_001362418.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 801,
"cds_start": 887,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 6845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ser288*",
"transcript": "ENST00000674847.1",
"protein_id": "ENSP00000501983.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 797,
"cds_start": 863,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 6967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.383C>A",
"hgvs_p": "p.Ser128*",
"transcript": "ENST00000675518.1",
"protein_id": "ENSP00000501852.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 787,
"cds_start": 383,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.797C>A",
"hgvs_p": "p.Ser266*",
"transcript": "NM_001438618.1",
"protein_id": "NP_001425547.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 775,
"cds_start": 797,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 6767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.809C>A",
"hgvs_p": "p.Ser270*",
"transcript": "ENST00000675063.1",
"protein_id": "ENSP00000501562.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 775,
"cds_start": 809,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 6836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.809C>A",
"hgvs_p": "p.Ser270*",
"transcript": "ENST00000675673.1",
"protein_id": "ENSP00000502083.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 775,
"cds_start": 809,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 6841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.794C>A",
"hgvs_p": "p.Ser265*",
"transcript": "NM_001438619.1",
"protein_id": "NP_001425548.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 774,
"cds_start": 794,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 6764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.794C>A",
"hgvs_p": "p.Ser265*",
"transcript": "NM_001438620.1",
"protein_id": "NP_001425549.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 770,
"cds_start": 794,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 6752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.770C>A",
"hgvs_p": "p.Ser257*",
"transcript": "NM_001351054.2",
"protein_id": "NP_001337983.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 766,
"cds_start": 770,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 6878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.770C>A",
"hgvs_p": "p.Ser257*",
"transcript": "ENST00000674935.1",
"protein_id": "ENSP00000501672.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 766,
"cds_start": 770,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 6896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.767C>A",
"hgvs_p": "p.Ser256*",
"transcript": "NM_001351055.2",
"protein_id": "NP_001337984.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 765,
"cds_start": 767,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 6875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.767C>A",
"hgvs_p": "p.Ser256*",
"transcript": "ENST00000674726.1",
"protein_id": "ENSP00000502266.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 765,
"cds_start": 767,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 6860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.770C>A",
"hgvs_p": "p.Ser257*",
"transcript": "ENST00000675977.1",
"protein_id": "ENSP00000501671.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 762,
"cds_start": 770,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 6871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.767C>A",
"hgvs_p": "p.Ser256*",
"transcript": "ENST00000674896.1",
"protein_id": "ENSP00000501725.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 761,
"cds_start": 767,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 6889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.740C>A",
"hgvs_p": "p.Ser247*",
"transcript": "NM_001375490.1",
"protein_id": "NP_001362419.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 752,
"cds_start": 740,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 6698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Ser246*",
"transcript": "NM_001375491.1",
"protein_id": "NP_001362420.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 751,
"cds_start": 737,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 6695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "NM_001351056.2",
"protein_id": "NP_001337985.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 748,
"cds_start": 716,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "NM_001438621.1",
"protein_id": "NP_001425550.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 748,
"cds_start": 716,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 7197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "NM_001438622.1",
"protein_id": "NP_001425551.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 748,
"cds_start": 716,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 6914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "NM_001438623.1",
"protein_id": "NP_001425552.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 748,
"cds_start": 716,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 6917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "NM_001438624.1",
"protein_id": "NP_001425553.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 748,
"cds_start": 716,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 7194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000675899.1",
"protein_id": "ENSP00000502775.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 748,
"cds_start": 716,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1500,
"cdna_end": null,
"cdna_length": 7367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000676167.1",
"protein_id": "ENSP00000502331.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 748,
"cds_start": 716,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 7325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000676408.1",
"protein_id": "ENSP00000502077.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 748,
"cds_start": 716,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 6906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "NM_001130067.2",
"protein_id": "NP_001123539.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 6827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "NM_001375512.1",
"protein_id": "NP_001362441.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 7549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "NM_001375513.1",
"protein_id": "NP_001362442.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 6913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "NM_001375514.1",
"protein_id": "NP_001362443.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 6918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "NM_001375515.1",
"protein_id": "NP_001362444.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 6830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "NM_001375516.1",
"protein_id": "NP_001362445.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 6840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "NM_001375517.1",
"protein_id": "NP_001362446.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 6754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "NM_001438045.1",
"protein_id": "NP_001424974.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 6916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000674874.1",
"protein_id": "ENSP00000502519.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 6816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000674876.1",
"protein_id": "ENSP00000501652.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 6752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000674976.1",
"protein_id": "ENSP00000502356.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 7548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000675054.1",
"protein_id": "ENSP00000502543.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 6826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000675159.1",
"protein_id": "ENSP00000501792.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 6716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000675293.1",
"protein_id": "ENSP00000502348.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 6752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000675315.1",
"protein_id": "ENSP00000502676.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 6748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000675384.1",
"protein_id": "ENSP00000502114.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 7543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000675745.1",
"protein_id": "ENSP00000501662.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 6965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000675835.1",
"protein_id": "ENSP00000501951.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 7269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000676172.1",
"protein_id": "ENSP00000501822.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 6755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000676252.1",
"protein_id": "ENSP00000501586.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 7016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000676264.1",
"protein_id": "ENSP00000502089.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 6995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000676348.1",
"protein_id": "ENSP00000502159.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 6944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000676374.1",
"protein_id": "ENSP00000502273.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 7056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000676423.1",
"protein_id": "ENSP00000501612.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 6748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000676458.1",
"protein_id": "ENSP00000501994.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 744,
"cds_start": 716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.713C>A",
"hgvs_p": "p.Ser238*",
"transcript": "ENST00000674769.1",
"protein_id": "ENSP00000502203.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 743,
"cds_start": 713,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 6835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.710C>A",
"hgvs_p": "p.Ser237*",
"transcript": "ENST00000675738.1",
"protein_id": "ENSP00000502320.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 742,
"cds_start": 710,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 6780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.659C>A",
"hgvs_p": "p.Ser220*",
"transcript": "ENST00000674872.1",
"protein_id": "ENSP00000501979.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 725,
"cds_start": 659,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 7307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.659C>A",
"hgvs_p": "p.Ser220*",
"transcript": "ENST00000675340.1",
"protein_id": "ENSP00000502290.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 725,
"cds_start": 659,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 6686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.659C>A",
"hgvs_p": "p.Ser220*",
"transcript": "ENST00000675780.1",
"protein_id": "ENSP00000502541.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 725,
"cds_start": 659,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 6692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "ENST00000460908.2",
"protein_id": "ENSP00000488751.2",
"transcript_support_level": 3,
"aa_start": 239,
"aa_end": null,
"aa_length": 681,
"cds_start": 716,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ser155*",
"transcript": "NM_001375519.1",
"protein_id": "NP_001362448.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 660,
"cds_start": 464,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 6422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.461C>A",
"hgvs_p": "p.Ser154*",
"transcript": "NM_001375520.1",
"protein_id": "NP_001362449.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 659,
"cds_start": 461,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 6419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Ser153*",
"transcript": "NM_001375522.1",
"protein_id": "NP_001362451.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 658,
"cds_start": 458,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 6702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Ser153*",
"transcript": "NM_001375523.1",
"protein_id": "NP_001362452.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 658,
"cds_start": 458,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 6705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Ser153*",
"transcript": "NM_001375525.1",
"protein_id": "NP_001362454.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 658,
"cds_start": 458,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 6645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Ser153*",
"transcript": "ENST00000675710.1",
"protein_id": "ENSP00000501997.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 658,
"cds_start": 458,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 6544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Ser153*",
"transcript": "ENST00000675782.1",
"protein_id": "ENSP00000502776.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 658,
"cds_start": 458,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 6639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Ser153*",
"transcript": "ENST00000676335.1",
"protein_id": "ENSP00000502243.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 658,
"cds_start": 458,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 7084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.437C>A",
"hgvs_p": "p.Ser146*",
"transcript": "ENST00000676196.1",
"protein_id": "ENSP00000502366.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 655,
"cds_start": 437,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 6562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.437C>A",
"hgvs_p": "p.Ser146*",
"transcript": "ENST00000675312.1",
"protein_id": "ENSP00000501684.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 651,
"cds_start": 437,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 6559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.434C>A",
"hgvs_p": "p.Ser145*",
"transcript": "ENST00000674730.1",
"protein_id": "ENSP00000502130.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 650,
"cds_start": 434,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 6524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.383C>A",
"hgvs_p": "p.Ser128*",
"transcript": "ENST00000675425.1",
"protein_id": "ENSP00000502492.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 633,
"cds_start": 383,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 6413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.383C>A",
"hgvs_p": "p.Ser128*",
"transcript": "ENST00000675492.1",
"protein_id": "ENSP00000502720.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 633,
"cds_start": 383,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 6412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"transcript": "NM_001351057.2",
"protein_id": "NP_001337986.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 619,
"cds_start": 341,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 6856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Ser153*",
"transcript": "ENST00000433687.2",
"protein_id": "ENSP00000400375.2",
"transcript_support_level": 3,
"aa_start": 153,
"aa_end": null,
"aa_length": 595,
"cds_start": 458,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.125C>A",
"hgvs_p": "p.Ser42*",
"transcript": "ENST00000675146.1",
"protein_id": "ENSP00000501760.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 547,
"cds_start": 125,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 6393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "XM_011531796.4",
"protein_id": "XP_011530098.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 748,
"cds_start": 716,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 6928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*",
"transcript": "XM_047449953.1",
"protein_id": "XP_047305909.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 748,
"cds_start": 716,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 6839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"transcript": "XM_006714165.4",
"protein_id": "XP_006714228.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 623,
"cds_start": 341,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 5524,
"cdna_end": null,
"cdna_length": 11406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"transcript": "XM_017007953.3",
"protein_id": "XP_016863442.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 623,
"cds_start": 341,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 6565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.882C>A",
"hgvs_p": null,
"transcript": "ENST00000479711.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "n.716C>A",
"hgvs_p": null,
"transcript": "ENST00000674680.1",
"protein_id": "ENSP00000502469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.885C>A",
"hgvs_p": null,
"transcript": "ENST00000674718.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*349C>A",
"hgvs_p": null,
"transcript": "ENST00000674786.1",
"protein_id": "ENSP00000502289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.552C>A",
"hgvs_p": null,
"transcript": "ENST00000674787.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*87C>A",
"hgvs_p": null,
"transcript": "ENST00000674832.1",
"protein_id": "ENSP00000502788.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.973C>A",
"hgvs_p": null,
"transcript": "ENST00000675019.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.1167C>A",
"hgvs_p": null,
"transcript": "ENST00000675049.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*349C>A",
"hgvs_p": null,
"transcript": "ENST00000675136.1",
"protein_id": "ENSP00000502292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.1028C>A",
"hgvs_p": null,
"transcript": "ENST00000675170.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.770C>A",
"hgvs_p": null,
"transcript": "ENST00000675210.1",
"protein_id": "ENSP00000501886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.716C>A",
"hgvs_p": null,
"transcript": "ENST00000675239.1",
"protein_id": "ENSP00000501915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*420C>A",
"hgvs_p": null,
"transcript": "ENST00000675348.1",
"protein_id": "ENSP00000502568.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.674C>A",
"hgvs_p": null,
"transcript": "ENST00000675363.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*417C>A",
"hgvs_p": null,
"transcript": "ENST00000675411.1",
"protein_id": "ENSP00000502140.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*420C>A",
"hgvs_p": null,
"transcript": "ENST00000675412.1",
"protein_id": "ENSP00000502332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*420C>A",
"hgvs_p": null,
"transcript": "ENST00000675462.1",
"protein_id": "ENSP00000502236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.770C>A",
"hgvs_p": null,
"transcript": "ENST00000675567.1",
"protein_id": "ENSP00000502659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*420C>A",
"hgvs_p": null,
"transcript": "ENST00000675627.1",
"protein_id": "ENSP00000502501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.770C>A",
"hgvs_p": null,
"transcript": "ENST00000675804.1",
"protein_id": "ENSP00000501826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.1712C>A",
"hgvs_p": null,
"transcript": "ENST00000675862.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.1500C>A",
"hgvs_p": null,
"transcript": "ENST00000675871.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*420C>A",
"hgvs_p": null,
"transcript": "ENST00000676015.1",
"protein_id": "ENSP00000501762.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*420C>A",
"hgvs_p": null,
"transcript": "ENST00000676029.1",
"protein_id": "ENSP00000501704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*420C>A",
"hgvs_p": null,
"transcript": "ENST00000676033.1",
"protein_id": "ENSP00000501844.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.695C>A",
"hgvs_p": null,
"transcript": "ENST00000676057.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*315C>A",
"hgvs_p": null,
"transcript": "ENST00000676158.1",
"protein_id": "ENSP00000502658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.885C>A",
"hgvs_p": null,
"transcript": "ENST00000676169.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.770C>A",
"hgvs_p": null,
"transcript": "ENST00000676202.1",
"protein_id": "ENSP00000502782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*417C>A",
"hgvs_p": null,
"transcript": "ENST00000676220.1",
"protein_id": "ENSP00000501629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.1712C>A",
"hgvs_p": null,
"transcript": "ENST00000676305.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*349C>A",
"hgvs_p": null,
"transcript": "ENST00000674786.1",
"protein_id": "ENSP00000502289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*87C>A",
"hgvs_p": null,
"transcript": "ENST00000674832.1",
"protein_id": "ENSP00000502788.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*349C>A",
"hgvs_p": null,
"transcript": "ENST00000675136.1",
"protein_id": "ENSP00000502292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*420C>A",
"hgvs_p": null,
"transcript": "ENST00000675348.1",
"protein_id": "ENSP00000502568.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*417C>A",
"hgvs_p": null,
"transcript": "ENST00000675411.1",
"protein_id": "ENSP00000502140.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*420C>A",
"hgvs_p": null,
"transcript": "ENST00000675412.1",
"protein_id": "ENSP00000502332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*420C>A",
"hgvs_p": null,
"transcript": "ENST00000675462.1",
"protein_id": "ENSP00000502236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*420C>A",
"hgvs_p": null,
"transcript": "ENST00000675627.1",
"protein_id": "ENSP00000502501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*420C>A",
"hgvs_p": null,
"transcript": "ENST00000676015.1",
"protein_id": "ENSP00000501762.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*420C>A",
"hgvs_p": null,
"transcript": "ENST00000676029.1",
"protein_id": "ENSP00000501704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*420C>A",
"hgvs_p": null,
"transcript": "ENST00000676033.1",
"protein_id": "ENSP00000501844.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*315C>A",
"hgvs_p": null,
"transcript": "ENST00000676158.1",
"protein_id": "ENSP00000502658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.*417C>A",
"hgvs_p": null,
"transcript": "ENST00000676220.1",
"protein_id": "ENSP00000501629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.426+19193C>A",
"hgvs_p": null,
"transcript": "ENST00000676191.1",
"protein_id": "ENSP00000502381.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.423+19193C>A",
"hgvs_p": null,
"transcript": "ENST00000675456.1",
"protein_id": "ENSP00000502472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.372+19193C>A",
"hgvs_p": null,
"transcript": "ENST00000675611.1",
"protein_id": "ENSP00000501564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": -4,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.372+19193C>A",
"hgvs_p": null,
"transcript": "ENST00000675343.1",
"protein_id": "ENSP00000502344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.372+19193C>A",
"hgvs_p": null,
"transcript": "ENST00000675623.1",
"protein_id": "ENSP00000501690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.372+19193C>A",
"hgvs_p": null,
"transcript": "ENST00000675744.1",
"protein_id": "ENSP00000502458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.423+19193C>A",
"hgvs_p": null,
"transcript": "ENST00000675783.1",
"protein_id": "ENSP00000501883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.372+19193C>A",
"hgvs_p": null,
"transcript": "ENST00000676224.1",
"protein_id": "ENSP00000502745.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.426+19193C>A",
"hgvs_p": null,
"transcript": "ENST00000676291.1",
"protein_id": "ENSP00000502141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"dbsnp": "rs746386202",
"frequency_reference_population": 0.000001386403,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013864,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.550000011920929,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.719,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000338700.10",
"gene_symbol": "TRIM2",
"hgnc_id": 15974,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.797C>A",
"hgvs_p": "p.Ser266*"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000675838.1",
"gene_symbol": "ENSG00000288637",
"hgnc_id": null,
"effects": [
"stop_gained"
],
"inheritance_mode": "",
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Ser239*"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 2R",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Charcot-Marie-Tooth disease type 2R",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}