← 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: 16-2086276-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2086276&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TSC2",
"hgnc_id": 12363,
"hgvs_c": "c.4746C>T",
"hgvs_p": "p.Ile1582Ile",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_000548.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS2",
"acmg_score": -8,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "16",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Tuberous sclerosis 2,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:4 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.28999999165534973,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1807,
"aa_ref": "I",
"aa_start": 1582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6415,
"cdna_start": 4856,
"cds_end": null,
"cds_length": 5424,
"cds_start": 4746,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_000548.5",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4746C>T",
"hgvs_p": "p.Ile1582Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000219476.9",
"protein_coding": true,
"protein_id": "NP_000539.2",
"strand": true,
"transcript": "NM_000548.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1807,
"aa_ref": "I",
"aa_start": 1582,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6415,
"cdna_start": 4856,
"cds_end": null,
"cds_length": 5424,
"cds_start": 4746,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000219476.9",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4746C>T",
"hgvs_p": "p.Ile1582Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000548.5",
"protein_coding": true,
"protein_id": "ENSP00000219476.3",
"strand": true,
"transcript": "ENST00000219476.9",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1784,
"aa_ref": "I",
"aa_start": 1559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5538,
"cdna_start": 4752,
"cds_end": null,
"cds_length": 5355,
"cds_start": 4677,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000350773.9",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4677C>T",
"hgvs_p": "p.Ile1559Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344383.4",
"strand": true,
"transcript": "ENST00000350773.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1740,
"aa_ref": "I",
"aa_start": 1515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5437,
"cdna_start": 4651,
"cds_end": null,
"cds_length": 5223,
"cds_start": 4545,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000401874.7",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4545C>T",
"hgvs_p": "p.Ile1515Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384468.2",
"strand": true,
"transcript": "ENST00000401874.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 38,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000439117.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*3913C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000406980.2",
"strand": true,
"transcript": "ENST00000439117.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 38,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000439117.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*3913C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000406980.2",
"strand": true,
"transcript": "ENST00000439117.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1837,
"aa_ref": "I",
"aa_start": 1612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6505,
"cdna_start": 4946,
"cds_end": null,
"cds_length": 5514,
"cds_start": 4836,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000645186.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4836C>T",
"hgvs_p": "p.Ile1612Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495110.2",
"strand": true,
"transcript": "ENST00000645186.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "I",
"aa_start": 1581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6412,
"cdna_start": 4853,
"cds_end": null,
"cds_length": 5421,
"cds_start": 4743,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001406663.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4743C>T",
"hgvs_p": "p.Ile1581Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393592.1",
"strand": true,
"transcript": "NM_001406663.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "I",
"aa_start": 1581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5574,
"cdna_start": 4814,
"cds_end": null,
"cds_length": 5421,
"cds_start": 4743,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000642365.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4743C>T",
"hgvs_p": "p.Ile1581Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495459.2",
"strand": true,
"transcript": "ENST00000642365.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1805,
"aa_ref": "I",
"aa_start": 1580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5614,
"cdna_start": 4826,
"cds_end": null,
"cds_length": 5418,
"cds_start": 4740,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000646388.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4740C>T",
"hgvs_p": "p.Ile1580Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495921.1",
"strand": true,
"transcript": "ENST00000646388.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1799,
"aa_ref": "I",
"aa_start": 1574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5623,
"cdna_start": 4835,
"cds_end": null,
"cds_length": 5400,
"cds_start": 4722,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000941763.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4722C>T",
"hgvs_p": "p.Ile1574Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611822.1",
"strand": true,
"transcript": "ENST00000941763.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1796,
"aa_ref": "I",
"aa_start": 1571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5594,
"cdna_start": 4823,
"cds_end": null,
"cds_length": 5391,
"cds_start": 4713,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000903285.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4713C>T",
"hgvs_p": "p.Ile1571Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573344.1",
"strand": true,
"transcript": "ENST00000903285.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1784,
"aa_ref": "I",
"aa_start": 1559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6346,
"cdna_start": 4787,
"cds_end": null,
"cds_length": 5355,
"cds_start": 4677,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001114382.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4677C>T",
"hgvs_p": "p.Ile1559Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001107854.1",
"strand": true,
"transcript": "NM_001114382.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1783,
"aa_ref": "I",
"aa_start": 1558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6343,
"cdna_start": 4784,
"cds_end": null,
"cds_length": 5352,
"cds_start": 4674,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001406664.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4674C>T",
"hgvs_p": "p.Ile1558Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393593.1",
"strand": true,
"transcript": "NM_001406664.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "I",
"aa_start": 1557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6344,
"cdna_start": 4789,
"cds_end": null,
"cds_length": 5349,
"cds_start": 4671,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000643946.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4671C>T",
"hgvs_p": "p.Ile1557Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495927.1",
"strand": true,
"transcript": "ENST00000643946.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1781,
"aa_ref": "I",
"aa_start": 1556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6337,
"cdna_start": 4778,
"cds_end": null,
"cds_length": 5346,
"cds_start": 4668,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001406665.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4668C>T",
"hgvs_p": "p.Ile1556Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393594.1",
"strand": true,
"transcript": "NM_001406665.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1781,
"aa_ref": "I",
"aa_start": 1556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5528,
"cdna_start": 4745,
"cds_end": null,
"cds_length": 5346,
"cds_start": 4668,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000941766.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4668C>T",
"hgvs_p": "p.Ile1556Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611825.1",
"strand": true,
"transcript": "ENST00000941766.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1780,
"aa_ref": "I",
"aa_start": 1555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5445,
"cdna_start": 4667,
"cds_end": null,
"cds_length": 5343,
"cds_start": 4665,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000644399.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4665C>T",
"hgvs_p": "p.Ile1555Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493990.1",
"strand": true,
"transcript": "ENST00000644399.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1780,
"aa_ref": "I",
"aa_start": 1555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5532,
"cdna_start": 4752,
"cds_end": null,
"cds_length": 5343,
"cds_start": 4665,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000903287.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4665C>T",
"hgvs_p": "p.Ile1555Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573346.1",
"strand": true,
"transcript": "ENST00000903287.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1771,
"aa_ref": "I",
"aa_start": 1546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6307,
"cdna_start": 4748,
"cds_end": null,
"cds_length": 5316,
"cds_start": 4638,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001406667.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4638C>T",
"hgvs_p": "p.Ile1546Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393596.1",
"strand": true,
"transcript": "NM_001406667.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1770,
"aa_ref": "I",
"aa_start": 1545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6304,
"cdna_start": 4745,
"cds_end": null,
"cds_length": 5313,
"cds_start": 4635,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001406668.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4635C>T",
"hgvs_p": "p.Ile1545Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393597.1",
"strand": true,
"transcript": "NM_001406668.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1769,
"aa_ref": "I",
"aa_start": 1515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5453,
"cdna_start": 4607,
"cds_end": null,
"cds_length": 5310,
"cds_start": 4545,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000644329.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4545C>T",
"hgvs_p": "p.Ile1515Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496611.1",
"strand": true,
"transcript": "ENST00000644329.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1764,
"aa_ref": "I",
"aa_start": 1539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6286,
"cdna_start": 4727,
"cds_end": null,
"cds_length": 5295,
"cds_start": 4617,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_021055.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4617C>T",
"hgvs_p": "p.Ile1539Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_066399.2",
"strand": true,
"transcript": "NM_021055.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1764,
"aa_ref": "I",
"aa_start": 1539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5457,
"cdna_start": 4671,
"cds_end": null,
"cds_length": 5295,
"cds_start": 4617,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000644043.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4617C>T",
"hgvs_p": "p.Ile1539Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496262.1",
"strand": true,
"transcript": "ENST00000644043.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1764,
"aa_ref": "I",
"aa_start": 1539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6926,
"cdna_start": 5367,
"cds_end": null,
"cds_length": 5295,
"cds_start": 4617,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000903281.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4617C>T",
"hgvs_p": "p.Ile1539Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573340.1",
"strand": true,
"transcript": "ENST00000903281.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1763,
"aa_ref": "I",
"aa_start": 1538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6283,
"cdna_start": 4724,
"cds_end": null,
"cds_length": 5292,
"cds_start": 4614,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001370404.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4614C>T",
"hgvs_p": "p.Ile1538Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357333.1",
"strand": true,
"transcript": "NM_001370404.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1763,
"aa_ref": "I",
"aa_start": 1538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5507,
"cdna_start": 4723,
"cds_end": null,
"cds_length": 5292,
"cds_start": 4614,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000642936.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4614C>T",
"hgvs_p": "p.Ile1538Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494514.1",
"strand": true,
"transcript": "ENST00000642936.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1763,
"aa_ref": "I",
"aa_start": 1538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5480,
"cdna_start": 4701,
"cds_end": null,
"cds_length": 5292,
"cds_start": 4614,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000903289.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4614C>T",
"hgvs_p": "p.Ile1538Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573348.1",
"strand": true,
"transcript": "ENST00000903289.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1760,
"aa_ref": "I",
"aa_start": 1539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6274,
"cdna_start": 4727,
"cds_end": null,
"cds_length": 5283,
"cds_start": 4617,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001370405.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4617C>T",
"hgvs_p": "p.Ile1539Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357334.1",
"strand": true,
"transcript": "NM_001370405.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1760,
"aa_ref": "I",
"aa_start": 1539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5396,
"cdna_start": 4669,
"cds_end": null,
"cds_length": 5283,
"cds_start": 4617,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000642561.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4617C>T",
"hgvs_p": "p.Ile1539Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495099.1",
"strand": true,
"transcript": "ENST00000642561.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1759,
"aa_ref": "I",
"aa_start": 1534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5469,
"cdna_start": 4689,
"cds_end": null,
"cds_length": 5280,
"cds_start": 4602,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000903288.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4602C>T",
"hgvs_p": "p.Ile1534Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573347.1",
"strand": true,
"transcript": "ENST00000903288.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1756,
"aa_ref": "I",
"aa_start": 1531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5485,
"cdna_start": 4709,
"cds_end": null,
"cds_length": 5271,
"cds_start": 4593,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000642206.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4593C>T",
"hgvs_p": "p.Ile1531Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495146.2",
"strand": true,
"transcript": "ENST00000642206.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1752,
"aa_ref": "I",
"aa_start": 1527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5461,
"cdna_start": 4698,
"cds_end": null,
"cds_length": 5259,
"cds_start": 4581,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000903286.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4581C>T",
"hgvs_p": "p.Ile1527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573345.1",
"strand": true,
"transcript": "ENST00000903286.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1751,
"aa_ref": "I",
"aa_start": 1526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6205,
"cdna_start": 4646,
"cds_end": null,
"cds_length": 5256,
"cds_start": 4578,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001318832.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4578C>T",
"hgvs_p": "p.Ile1526Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305761.1",
"strand": true,
"transcript": "NM_001318832.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1751,
"aa_ref": "I",
"aa_start": 1526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5429,
"cdna_start": 4646,
"cds_end": null,
"cds_length": 5256,
"cds_start": 4578,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000568454.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4578C>T",
"hgvs_p": "p.Ile1526Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454487.1",
"strand": true,
"transcript": "ENST00000568454.6",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1747,
"aa_ref": "I",
"aa_start": 1522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6235,
"cdna_start": 4676,
"cds_end": null,
"cds_length": 5244,
"cds_start": 4566,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001406670.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4566C>T",
"hgvs_p": "p.Ile1522Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393599.1",
"strand": true,
"transcript": "NM_001406670.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1741,
"aa_ref": "I",
"aa_start": 1516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6217,
"cdna_start": 4658,
"cds_end": null,
"cds_length": 5226,
"cds_start": 4548,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001363528.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4548C>T",
"hgvs_p": "p.Ile1516Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350457.1",
"strand": true,
"transcript": "NM_001363528.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1741,
"aa_ref": "I",
"aa_start": 1516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5388,
"cdna_start": 4602,
"cds_end": null,
"cds_length": 5226,
"cds_start": 4548,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000642797.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4548C>T",
"hgvs_p": "p.Ile1516Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493846.1",
"strand": true,
"transcript": "ENST00000642797.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1741,
"aa_ref": "I",
"aa_start": 1516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5396,
"cdna_start": 4619,
"cds_end": null,
"cds_length": 5226,
"cds_start": 4548,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000941767.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4548C>T",
"hgvs_p": "p.Ile1516Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611826.1",
"strand": true,
"transcript": "ENST00000941767.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1740,
"aa_ref": "I",
"aa_start": 1515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6214,
"cdna_start": 4655,
"cds_end": null,
"cds_length": 5223,
"cds_start": 4545,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001077183.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4545C>T",
"hgvs_p": "p.Ile1515Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001070651.1",
"strand": true,
"transcript": "NM_001077183.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1739,
"aa_ref": "I",
"aa_start": 1514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5433,
"cdna_start": 4642,
"cds_end": null,
"cds_length": 5220,
"cds_start": 4542,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000644335.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4542C>T",
"hgvs_p": "p.Ile1514Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496317.1",
"strand": true,
"transcript": "ENST00000644335.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "I",
"aa_start": 1513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5970,
"cdna_start": 4657,
"cds_end": null,
"cds_length": 5217,
"cds_start": 4539,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000643088.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4539C>T",
"hgvs_p": "p.Ile1513Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494747.1",
"strand": true,
"transcript": "ENST00000643088.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1737,
"aa_ref": "I",
"aa_start": 1512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6205,
"cdna_start": 4646,
"cds_end": null,
"cds_length": 5214,
"cds_start": 4536,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001406671.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4536C>T",
"hgvs_p": "p.Ile1512Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393600.1",
"strand": true,
"transcript": "NM_001406671.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1736,
"aa_ref": "I",
"aa_start": 1511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6202,
"cdna_start": 4643,
"cds_end": null,
"cds_length": 5211,
"cds_start": 4533,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001406673.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4533C>T",
"hgvs_p": "p.Ile1511Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393602.1",
"strand": true,
"transcript": "NM_001406673.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1735,
"aa_ref": "I",
"aa_start": 1510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6179,
"cdna_start": 4620,
"cds_end": null,
"cds_length": 5208,
"cds_start": 4530,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001406675.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4530C>T",
"hgvs_p": "p.Ile1510Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393604.1",
"strand": true,
"transcript": "NM_001406675.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1734,
"aa_ref": "I",
"aa_start": 1509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6176,
"cdna_start": 4617,
"cds_end": null,
"cds_length": 5205,
"cds_start": 4527,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001406676.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4527C>T",
"hgvs_p": "p.Ile1509Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393605.1",
"strand": true,
"transcript": "NM_001406676.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1729,
"aa_ref": "I",
"aa_start": 1504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5404,
"cdna_start": 4631,
"cds_end": null,
"cds_length": 5190,
"cds_start": 4512,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000903282.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4512C>T",
"hgvs_p": "p.Ile1504Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573341.1",
"strand": true,
"transcript": "ENST00000903282.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1723,
"aa_ref": "I",
"aa_start": 1498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5337,
"cdna_start": 4578,
"cds_end": null,
"cds_length": 5172,
"cds_start": 4494,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000903291.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4494C>T",
"hgvs_p": "p.Ile1498Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573350.1",
"strand": true,
"transcript": "ENST00000903291.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1722,
"aa_ref": "I",
"aa_start": 1497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5379,
"cdna_start": 4601,
"cds_end": null,
"cds_length": 5169,
"cds_start": 4491,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000903284.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4491C>T",
"hgvs_p": "p.Ile1497Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573343.1",
"strand": true,
"transcript": "ENST00000903284.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1721,
"aa_ref": "I",
"aa_start": 1496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6137,
"cdna_start": 4578,
"cds_end": null,
"cds_length": 5166,
"cds_start": 4488,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_001406677.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4488C>T",
"hgvs_p": "p.Ile1496Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393606.1",
"strand": true,
"transcript": "NM_001406677.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1704,
"aa_ref": "I",
"aa_start": 1479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6106,
"cdna_start": 4547,
"cds_end": null,
"cds_length": 5115,
"cds_start": 4437,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_001318827.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4437C>T",
"hgvs_p": "p.Ile1479Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305756.1",
"strand": true,
"transcript": "NM_001318827.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1704,
"aa_ref": "I",
"aa_start": 1479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5287,
"cdna_start": 4518,
"cds_end": null,
"cds_length": 5115,
"cds_start": 4437,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000439673.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4437C>T",
"hgvs_p": "p.Ile1479Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399232.2",
"strand": true,
"transcript": "ENST00000439673.6",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1703,
"aa_ref": "I",
"aa_start": 1478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6103,
"cdna_start": 4544,
"cds_end": null,
"cds_length": 5112,
"cds_start": 4434,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_001406678.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4434C>T",
"hgvs_p": "p.Ile1478Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393607.1",
"strand": true,
"transcript": "NM_001406678.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1703,
"aa_ref": "I",
"aa_start": 1478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5324,
"cdna_start": 4544,
"cds_end": null,
"cds_length": 5112,
"cds_start": 4434,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000920525.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4434C>T",
"hgvs_p": "p.Ile1478Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590584.1",
"strand": true,
"transcript": "ENST00000920525.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1701,
"aa_ref": "I",
"aa_start": 1476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5305,
"cdna_start": 4526,
"cds_end": null,
"cds_length": 5106,
"cds_start": 4428,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000941765.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4428C>T",
"hgvs_p": "p.Ile1476Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611824.1",
"strand": true,
"transcript": "ENST00000941765.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1700,
"aa_ref": "I",
"aa_start": 1475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5315,
"cdna_start": 4535,
"cds_end": null,
"cds_length": 5103,
"cds_start": 4425,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000903283.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4425C>T",
"hgvs_p": "p.Ile1475Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573342.1",
"strand": true,
"transcript": "ENST00000903283.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1700,
"aa_ref": "I",
"aa_start": 1475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5304,
"cdna_start": 4534,
"cds_end": null,
"cds_length": 5103,
"cds_start": 4425,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000920526.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4425C>T",
"hgvs_p": "p.Ile1475Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590585.1",
"strand": true,
"transcript": "ENST00000920526.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1693,
"aa_ref": "I",
"aa_start": 1468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5267,
"cdna_start": 4489,
"cds_end": null,
"cds_length": 5082,
"cds_start": 4404,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000903290.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4404C>T",
"hgvs_p": "p.Ile1468Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573349.1",
"strand": true,
"transcript": "ENST00000903290.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1692,
"aa_ref": "I",
"aa_start": 1467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6050,
"cdna_start": 4491,
"cds_end": null,
"cds_length": 5079,
"cds_start": 4401,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_001318829.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4401C>T",
"hgvs_p": "p.Ile1467Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305758.1",
"strand": true,
"transcript": "NM_001318829.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1692,
"aa_ref": "I",
"aa_start": 1467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5264,
"cdna_start": 4496,
"cds_end": null,
"cds_length": 5079,
"cds_start": 4401,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000382538.10",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4401C>T",
"hgvs_p": "p.Ile1467Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371978.6",
"strand": true,
"transcript": "ENST00000382538.10",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1692,
"aa_ref": "I",
"aa_start": 1467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5290,
"cdna_start": 4511,
"cds_end": null,
"cds_length": 5079,
"cds_start": 4401,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000941764.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4401C>T",
"hgvs_p": "p.Ile1467Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611823.1",
"strand": true,
"transcript": "ENST00000941764.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1691,
"aa_ref": "I",
"aa_start": 1466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6047,
"cdna_start": 4488,
"cds_end": null,
"cds_length": 5076,
"cds_start": 4398,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_001406679.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4398C>T",
"hgvs_p": "p.Ile1466Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393608.1",
"strand": true,
"transcript": "NM_001406679.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1607,
"aa_ref": "I",
"aa_start": 1382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6631,
"cdna_start": 5072,
"cds_end": null,
"cds_length": 4824,
"cds_start": 4146,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001406680.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4146C>T",
"hgvs_p": "p.Ile1382Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393609.1",
"strand": true,
"transcript": "NM_001406680.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1587,
"aa_ref": "I",
"aa_start": 1362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6200,
"cdna_start": 4641,
"cds_end": null,
"cds_length": 4764,
"cds_start": 4086,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001406681.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4086C>T",
"hgvs_p": "p.Ile1362Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393610.1",
"strand": true,
"transcript": "NM_001406681.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1584,
"aa_ref": "I",
"aa_start": 1359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5972,
"cdna_start": 4413,
"cds_end": null,
"cds_length": 4755,
"cds_start": 4077,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001406682.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4077C>T",
"hgvs_p": "p.Ile1359Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393611.1",
"strand": true,
"transcript": "NM_001406682.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1584,
"aa_ref": "I",
"aa_start": 1359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6562,
"cdna_start": 5003,
"cds_end": null,
"cds_length": 4755,
"cds_start": 4077,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001406683.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4077C>T",
"hgvs_p": "p.Ile1359Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393612.1",
"strand": true,
"transcript": "NM_001406683.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1583,
"aa_ref": "I",
"aa_start": 1358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5969,
"cdna_start": 4410,
"cds_end": null,
"cds_length": 4752,
"cds_start": 4074,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001406684.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4074C>T",
"hgvs_p": "p.Ile1358Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393613.1",
"strand": true,
"transcript": "NM_001406684.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1563,
"aa_ref": "I",
"aa_start": 1338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5909,
"cdna_start": 4350,
"cds_end": null,
"cds_length": 4692,
"cds_start": 4014,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001318831.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4014C>T",
"hgvs_p": "p.Ile1338Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305760.1",
"strand": true,
"transcript": "NM_001318831.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1541,
"aa_ref": "I",
"aa_start": 1316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5843,
"cdna_start": 4284,
"cds_end": null,
"cds_length": 4626,
"cds_start": 3948,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_001406685.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3948C>T",
"hgvs_p": "p.Ile1316Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393614.1",
"strand": true,
"transcript": "NM_001406685.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1541,
"aa_ref": "I",
"aa_start": 1316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5676,
"cdna_start": 4117,
"cds_end": null,
"cds_length": 4626,
"cds_start": 3948,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001406686.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3948C>T",
"hgvs_p": "p.Ile1316Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393615.1",
"strand": true,
"transcript": "NM_001406686.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1540,
"aa_ref": "I",
"aa_start": 1315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6430,
"cdna_start": 4871,
"cds_end": null,
"cds_length": 4623,
"cds_start": 3945,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001406687.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3945C>T",
"hgvs_p": "p.Ile1315Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393616.1",
"strand": true,
"transcript": "NM_001406687.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1540,
"aa_ref": "I",
"aa_start": 1315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5840,
"cdna_start": 4281,
"cds_end": null,
"cds_length": 4623,
"cds_start": 3945,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_001406688.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3945C>T",
"hgvs_p": "p.Ile1315Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393617.1",
"strand": true,
"transcript": "NM_001406688.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1336,
"aa_ref": "I",
"aa_start": 1111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6433,
"cdna_start": 4874,
"cds_end": null,
"cds_length": 4011,
"cds_start": 3333,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001406689.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3333C>T",
"hgvs_p": "p.Ile1111Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393618.1",
"strand": true,
"transcript": "NM_001406689.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1316,
"aa_ref": "I",
"aa_start": 1091,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6373,
"cdna_start": 4814,
"cds_end": null,
"cds_length": 3951,
"cds_start": 3273,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001406690.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3273C>T",
"hgvs_p": "p.Ile1091Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393619.1",
"strand": true,
"transcript": "NM_001406690.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "I",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6370,
"cdna_start": 4811,
"cds_end": null,
"cds_length": 3948,
"cds_start": 3270,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001406691.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3270C>T",
"hgvs_p": "p.Ile1090Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393620.1",
"strand": true,
"transcript": "NM_001406691.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "I",
"aa_start": 1068,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6304,
"cdna_start": 4745,
"cds_end": null,
"cds_length": 3882,
"cds_start": 3204,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001406692.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3204C>T",
"hgvs_p": "p.Ile1068Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393621.1",
"strand": true,
"transcript": "NM_001406692.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "I",
"aa_start": 1068,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6610,
"cdna_start": 5051,
"cds_end": null,
"cds_length": 3882,
"cds_start": 3204,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001406693.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3204C>T",
"hgvs_p": "p.Ile1068Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393622.1",
"strand": true,
"transcript": "NM_001406693.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "I",
"aa_start": 1068,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6185,
"cdna_start": 4626,
"cds_end": null,
"cds_length": 3882,
"cds_start": 3204,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001406694.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3204C>T",
"hgvs_p": "p.Ile1068Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393623.1",
"strand": true,
"transcript": "NM_001406694.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "I",
"aa_start": 1067,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6182,
"cdna_start": 4623,
"cds_end": null,
"cds_length": 3879,
"cds_start": 3201,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001406695.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3201C>T",
"hgvs_p": "p.Ile1067Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393624.1",
"strand": true,
"transcript": "NM_001406695.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "I",
"aa_start": 1067,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6289,
"cdna_start": 4730,
"cds_end": null,
"cds_length": 3879,
"cds_start": 3201,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001406696.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3201C>T",
"hgvs_p": "p.Ile1067Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393625.1",
"strand": true,
"transcript": "NM_001406696.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "I",
"aa_start": 1067,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6301,
"cdna_start": 4742,
"cds_end": null,
"cds_length": 3879,
"cds_start": 3201,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001406697.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3201C>T",
"hgvs_p": "p.Ile1067Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393626.1",
"strand": true,
"transcript": "NM_001406697.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1206,
"aa_ref": "I",
"aa_start": 981,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6219,
"cdna_start": 4660,
"cds_end": null,
"cds_length": 3621,
"cds_start": 2943,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001406698.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.2943C>T",
"hgvs_p": "p.Ile981Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393627.1",
"strand": true,
"transcript": "NM_001406698.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1825,
"aa_ref": "I",
"aa_start": 1600,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6469,
"cdna_start": 4910,
"cds_end": null,
"cds_length": 5478,
"cds_start": 4800,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_011522636.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4800C>T",
"hgvs_p": "p.Ile1600Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520938.1",
"strand": true,
"transcript": "XM_011522636.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1824,
"aa_ref": "I",
"aa_start": 1599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6466,
"cdna_start": 4907,
"cds_end": null,
"cds_length": 5475,
"cds_start": 4797,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_011522637.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4797C>T",
"hgvs_p": "p.Ile1599Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520939.1",
"strand": true,
"transcript": "XM_011522637.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1788,
"aa_ref": "I",
"aa_start": 1563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6358,
"cdna_start": 4799,
"cds_end": null,
"cds_length": 5367,
"cds_start": 4689,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "XM_011522638.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4689C>T",
"hgvs_p": "p.Ile1563Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520940.3",
"strand": true,
"transcript": "XM_011522638.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "I",
"aa_start": 1557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6340,
"cdna_start": 4781,
"cds_end": null,
"cds_length": 5349,
"cds_start": 4671,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "XM_011522639.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4671C>T",
"hgvs_p": "p.Ile1557Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520941.1",
"strand": true,
"transcript": "XM_011522639.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3248,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000497886.5",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.2504C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000497886.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5350,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000568566.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*3095C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455997.2",
"strand": true,
"transcript": "ENST00000568566.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000569110.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*20C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455817.2",
"strand": true,
"transcript": "ENST00000569110.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3388,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000569930.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.2628C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000569930.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1171,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000642728.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.928C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000642728.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000642791.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.343C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000642791.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1181,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000643177.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.760C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000643177.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3123,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000643426.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.2394C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000643426.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 649,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000644278.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.228C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000644278.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6666,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000644417.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*5259C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493912.2",
"strand": true,
"transcript": "ENST00000644417.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000645024.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.2830C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000645024.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8598,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000646464.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*7495C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496610.2",
"strand": true,
"transcript": "ENST00000646464.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4321,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000646634.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.3561C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000646634.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000646674.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.1998C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000646674.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000647042.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.1969C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000647042.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2617,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000647180.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.1859C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000647180.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6283,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000715163.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.5523C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000715163.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6257,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NR_176225.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.4698C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_176225.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6505,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NR_176226.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.4946C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_176226.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6433,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NR_176227.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.4874C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_176227.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6254,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NR_176228.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.4695C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_176228.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6179,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NR_176229.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.4655C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_176229.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5350,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000568566.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*3095C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455997.2",
"strand": true,
"transcript": "ENST00000568566.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000569110.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*20C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455817.2",
"strand": true,
"transcript": "ENST00000569110.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6666,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 42,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000644417.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*5259C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493912.2",
"strand": true,
"transcript": "ENST00000644417.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8598,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000646464.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*7495C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496610.2",
"strand": true,
"transcript": "ENST00000646464.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 478,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646557.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.-94C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000646557.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs751305758",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0000055805576,
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"gnomad_exomes_ac": 5,
"gnomad_exomes_af": 0.00000342331,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000262871,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not specified|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.147,
"pos": 2086276,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000548.5"
}
]
}