← 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: 16-2088325-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2088325&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"PP3_Strong",
"BP6"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "TSC2",
"hgnc_id": 12363,
"hgvs_c": "c.5259G>A",
"hgvs_p": "p.Arg1753Arg",
"inheritance_mode": "AD",
"pathogenic_score": 6,
"score": 5,
"transcript": "NM_000548.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Strong,BP6",
"acmg_score": 5,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "16",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Tuberous sclerosis 2,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5400000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1807,
"aa_ref": "R",
"aa_start": 1753,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6415,
"cdna_start": 5369,
"cds_end": null,
"cds_length": 5424,
"cds_start": 5259,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_000548.5",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5259G>A",
"hgvs_p": "p.Arg1753Arg",
"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": "R",
"aa_end": null,
"aa_length": 1807,
"aa_ref": "R",
"aa_start": 1753,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6415,
"cdna_start": 5369,
"cds_end": null,
"cds_length": 5424,
"cds_start": 5259,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000219476.9",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5259G>A",
"hgvs_p": "p.Arg1753Arg",
"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": "R",
"aa_end": null,
"aa_length": 1784,
"aa_ref": "R",
"aa_start": 1730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5538,
"cdna_start": 5265,
"cds_end": null,
"cds_length": 5355,
"cds_start": 5190,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000350773.9",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5190G>A",
"hgvs_p": "p.Arg1730Arg",
"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": "R",
"aa_end": null,
"aa_length": 1740,
"aa_ref": "R",
"aa_start": 1686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5437,
"cdna_start": 5164,
"cds_end": null,
"cds_length": 5223,
"cds_start": 5058,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000401874.7",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5058G>A",
"hgvs_p": "p.Arg1686Arg",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000439117.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*4426G>A",
"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": 37,
"exon_rank_end": null,
"feature": "ENST00000439117.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*4426G>A",
"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": "R",
"aa_end": null,
"aa_length": 1837,
"aa_ref": "R",
"aa_start": 1783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6505,
"cdna_start": 5459,
"cds_end": null,
"cds_length": 5514,
"cds_start": 5349,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000645186.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5349G>A",
"hgvs_p": "p.Arg1783Arg",
"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": "R",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "R",
"aa_start": 1752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6412,
"cdna_start": 5366,
"cds_end": null,
"cds_length": 5421,
"cds_start": 5256,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_001406663.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5256G>A",
"hgvs_p": "p.Arg1752Arg",
"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": "R",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "R",
"aa_start": 1752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5574,
"cdna_start": 5327,
"cds_end": null,
"cds_length": 5421,
"cds_start": 5256,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000642365.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5256G>A",
"hgvs_p": "p.Arg1752Arg",
"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": "R",
"aa_end": null,
"aa_length": 1805,
"aa_ref": "R",
"aa_start": 1751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5614,
"cdna_start": 5339,
"cds_end": null,
"cds_length": 5418,
"cds_start": 5253,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000646388.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5253G>A",
"hgvs_p": "p.Arg1751Arg",
"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": "R",
"aa_end": null,
"aa_length": 1799,
"aa_ref": "R",
"aa_start": 1745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5623,
"cdna_start": 5348,
"cds_end": null,
"cds_length": 5400,
"cds_start": 5235,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000941763.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5235G>A",
"hgvs_p": "p.Arg1745Arg",
"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": "R",
"aa_end": null,
"aa_length": 1796,
"aa_ref": "R",
"aa_start": 1742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5594,
"cdna_start": 5336,
"cds_end": null,
"cds_length": 5391,
"cds_start": 5226,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000903285.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5226G>A",
"hgvs_p": "p.Arg1742Arg",
"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": "R",
"aa_end": null,
"aa_length": 1784,
"aa_ref": "R",
"aa_start": 1730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6346,
"cdna_start": 5300,
"cds_end": null,
"cds_length": 5355,
"cds_start": 5190,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001114382.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5190G>A",
"hgvs_p": "p.Arg1730Arg",
"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": "R",
"aa_end": null,
"aa_length": 1783,
"aa_ref": "R",
"aa_start": 1729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6343,
"cdna_start": 5297,
"cds_end": null,
"cds_length": 5352,
"cds_start": 5187,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001406664.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5187G>A",
"hgvs_p": "p.Arg1729Arg",
"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": "R",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "R",
"aa_start": 1728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6344,
"cdna_start": 5302,
"cds_end": null,
"cds_length": 5349,
"cds_start": 5184,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000643946.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5184G>A",
"hgvs_p": "p.Arg1728Arg",
"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": "R",
"aa_end": null,
"aa_length": 1781,
"aa_ref": "R",
"aa_start": 1727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6337,
"cdna_start": 5291,
"cds_end": null,
"cds_length": 5346,
"cds_start": 5181,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001406665.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5181G>A",
"hgvs_p": "p.Arg1727Arg",
"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": "R",
"aa_end": null,
"aa_length": 1781,
"aa_ref": "R",
"aa_start": 1727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5528,
"cdna_start": 5258,
"cds_end": null,
"cds_length": 5346,
"cds_start": 5181,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000941766.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5181G>A",
"hgvs_p": "p.Arg1727Arg",
"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": "R",
"aa_end": null,
"aa_length": 1780,
"aa_ref": "R",
"aa_start": 1726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5445,
"cdna_start": 5180,
"cds_end": null,
"cds_length": 5343,
"cds_start": 5178,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000644399.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5178G>A",
"hgvs_p": "p.Arg1726Arg",
"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": "R",
"aa_end": null,
"aa_length": 1780,
"aa_ref": "R",
"aa_start": 1726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5532,
"cdna_start": 5265,
"cds_end": null,
"cds_length": 5343,
"cds_start": 5178,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000903287.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5178G>A",
"hgvs_p": "p.Arg1726Arg",
"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": "R",
"aa_end": null,
"aa_length": 1771,
"aa_ref": "R",
"aa_start": 1717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6307,
"cdna_start": 5261,
"cds_end": null,
"cds_length": 5316,
"cds_start": 5151,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001406667.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5151G>A",
"hgvs_p": "p.Arg1717Arg",
"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": "R",
"aa_end": null,
"aa_length": 1770,
"aa_ref": "R",
"aa_start": 1716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6304,
"cdna_start": 5258,
"cds_end": null,
"cds_length": 5313,
"cds_start": 5148,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001406668.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5148G>A",
"hgvs_p": "p.Arg1716Arg",
"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": "R",
"aa_end": null,
"aa_length": 1769,
"aa_ref": "R",
"aa_start": 1715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5453,
"cdna_start": 5207,
"cds_end": null,
"cds_length": 5310,
"cds_start": 5145,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000644329.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5145G>A",
"hgvs_p": "p.Arg1715Arg",
"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": "R",
"aa_end": null,
"aa_length": 1764,
"aa_ref": "R",
"aa_start": 1710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6286,
"cdna_start": 5240,
"cds_end": null,
"cds_length": 5295,
"cds_start": 5130,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_021055.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5130G>A",
"hgvs_p": "p.Arg1710Arg",
"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": "R",
"aa_end": null,
"aa_length": 1764,
"aa_ref": "R",
"aa_start": 1710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5457,
"cdna_start": 5184,
"cds_end": null,
"cds_length": 5295,
"cds_start": 5130,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000644043.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5130G>A",
"hgvs_p": "p.Arg1710Arg",
"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": "R",
"aa_end": null,
"aa_length": 1764,
"aa_ref": "R",
"aa_start": 1710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6926,
"cdna_start": 5880,
"cds_end": null,
"cds_length": 5295,
"cds_start": 5130,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000903281.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5130G>A",
"hgvs_p": "p.Arg1710Arg",
"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": "R",
"aa_end": null,
"aa_length": 1763,
"aa_ref": "R",
"aa_start": 1709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6283,
"cdna_start": 5237,
"cds_end": null,
"cds_length": 5292,
"cds_start": 5127,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001370404.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5127G>A",
"hgvs_p": "p.Arg1709Arg",
"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": "R",
"aa_end": null,
"aa_length": 1763,
"aa_ref": "R",
"aa_start": 1709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5507,
"cdna_start": 5236,
"cds_end": null,
"cds_length": 5292,
"cds_start": 5127,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000642936.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5127G>A",
"hgvs_p": "p.Arg1709Arg",
"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": "R",
"aa_end": null,
"aa_length": 1763,
"aa_ref": "R",
"aa_start": 1709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5480,
"cdna_start": 5214,
"cds_end": null,
"cds_length": 5292,
"cds_start": 5127,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000903289.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5127G>A",
"hgvs_p": "p.Arg1709Arg",
"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": "R",
"aa_end": null,
"aa_length": 1760,
"aa_ref": "R",
"aa_start": 1706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6274,
"cdna_start": 5228,
"cds_end": null,
"cds_length": 5283,
"cds_start": 5118,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001370405.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5118G>A",
"hgvs_p": "p.Arg1706Arg",
"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": "R",
"aa_end": null,
"aa_length": 1760,
"aa_ref": "R",
"aa_start": 1706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5396,
"cdna_start": 5170,
"cds_end": null,
"cds_length": 5283,
"cds_start": 5118,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000642561.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5118G>A",
"hgvs_p": "p.Arg1706Arg",
"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": "R",
"aa_end": null,
"aa_length": 1759,
"aa_ref": "R",
"aa_start": 1705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5469,
"cdna_start": 5202,
"cds_end": null,
"cds_length": 5280,
"cds_start": 5115,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000903288.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5115G>A",
"hgvs_p": "p.Arg1705Arg",
"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": "R",
"aa_end": null,
"aa_length": 1756,
"aa_ref": "R",
"aa_start": 1702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5485,
"cdna_start": 5222,
"cds_end": null,
"cds_length": 5271,
"cds_start": 5106,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000642206.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5106G>A",
"hgvs_p": "p.Arg1702Arg",
"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": "R",
"aa_end": null,
"aa_length": 1752,
"aa_ref": "R",
"aa_start": 1698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5461,
"cdna_start": 5211,
"cds_end": null,
"cds_length": 5259,
"cds_start": 5094,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000903286.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5094G>A",
"hgvs_p": "p.Arg1698Arg",
"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": "R",
"aa_end": null,
"aa_length": 1751,
"aa_ref": "R",
"aa_start": 1697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6205,
"cdna_start": 5159,
"cds_end": null,
"cds_length": 5256,
"cds_start": 5091,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001318832.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5091G>A",
"hgvs_p": "p.Arg1697Arg",
"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": "R",
"aa_end": null,
"aa_length": 1751,
"aa_ref": "R",
"aa_start": 1697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5429,
"cdna_start": 5159,
"cds_end": null,
"cds_length": 5256,
"cds_start": 5091,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000568454.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5091G>A",
"hgvs_p": "p.Arg1697Arg",
"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": "R",
"aa_end": null,
"aa_length": 1747,
"aa_ref": "R",
"aa_start": 1693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6235,
"cdna_start": 5189,
"cds_end": null,
"cds_length": 5244,
"cds_start": 5079,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001406670.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5079G>A",
"hgvs_p": "p.Arg1693Arg",
"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": "R",
"aa_end": null,
"aa_length": 1741,
"aa_ref": "R",
"aa_start": 1687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6217,
"cdna_start": 5171,
"cds_end": null,
"cds_length": 5226,
"cds_start": 5061,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001363528.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5061G>A",
"hgvs_p": "p.Arg1687Arg",
"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": "R",
"aa_end": null,
"aa_length": 1741,
"aa_ref": "R",
"aa_start": 1687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5388,
"cdna_start": 5115,
"cds_end": null,
"cds_length": 5226,
"cds_start": 5061,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000642797.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5061G>A",
"hgvs_p": "p.Arg1687Arg",
"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": "R",
"aa_end": null,
"aa_length": 1741,
"aa_ref": "R",
"aa_start": 1687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5396,
"cdna_start": 5132,
"cds_end": null,
"cds_length": 5226,
"cds_start": 5061,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000941767.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5061G>A",
"hgvs_p": "p.Arg1687Arg",
"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": "R",
"aa_end": null,
"aa_length": 1740,
"aa_ref": "R",
"aa_start": 1686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6214,
"cdna_start": 5168,
"cds_end": null,
"cds_length": 5223,
"cds_start": 5058,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001077183.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5058G>A",
"hgvs_p": "p.Arg1686Arg",
"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": "R",
"aa_end": null,
"aa_length": 1739,
"aa_ref": "R",
"aa_start": 1685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5433,
"cdna_start": 5155,
"cds_end": null,
"cds_length": 5220,
"cds_start": 5055,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000644335.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5055G>A",
"hgvs_p": "p.Arg1685Arg",
"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": "R",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "R",
"aa_start": 1684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5970,
"cdna_start": 5170,
"cds_end": null,
"cds_length": 5217,
"cds_start": 5052,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000643088.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5052G>A",
"hgvs_p": "p.Arg1684Arg",
"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": "R",
"aa_end": null,
"aa_length": 1737,
"aa_ref": "R",
"aa_start": 1683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6205,
"cdna_start": 5159,
"cds_end": null,
"cds_length": 5214,
"cds_start": 5049,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001406671.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5049G>A",
"hgvs_p": "p.Arg1683Arg",
"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": "R",
"aa_end": null,
"aa_length": 1736,
"aa_ref": "R",
"aa_start": 1682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6202,
"cdna_start": 5156,
"cds_end": null,
"cds_length": 5211,
"cds_start": 5046,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001406673.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5046G>A",
"hgvs_p": "p.Arg1682Arg",
"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": "R",
"aa_end": null,
"aa_length": 1735,
"aa_ref": "R",
"aa_start": 1681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6179,
"cdna_start": 5133,
"cds_end": null,
"cds_length": 5208,
"cds_start": 5043,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001406675.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5043G>A",
"hgvs_p": "p.Arg1681Arg",
"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": "R",
"aa_end": null,
"aa_length": 1734,
"aa_ref": "R",
"aa_start": 1680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6176,
"cdna_start": 5130,
"cds_end": null,
"cds_length": 5205,
"cds_start": 5040,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001406676.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5040G>A",
"hgvs_p": "p.Arg1680Arg",
"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": "R",
"aa_end": null,
"aa_length": 1729,
"aa_ref": "R",
"aa_start": 1675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5404,
"cdna_start": 5144,
"cds_end": null,
"cds_length": 5190,
"cds_start": 5025,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000903282.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5025G>A",
"hgvs_p": "p.Arg1675Arg",
"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": "R",
"aa_end": null,
"aa_length": 1723,
"aa_ref": "R",
"aa_start": 1669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5337,
"cdna_start": 5091,
"cds_end": null,
"cds_length": 5172,
"cds_start": 5007,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000903291.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5007G>A",
"hgvs_p": "p.Arg1669Arg",
"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": "R",
"aa_end": null,
"aa_length": 1722,
"aa_ref": "R",
"aa_start": 1668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5379,
"cdna_start": 5114,
"cds_end": null,
"cds_length": 5169,
"cds_start": 5004,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000903284.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5004G>A",
"hgvs_p": "p.Arg1668Arg",
"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": "R",
"aa_end": null,
"aa_length": 1721,
"aa_ref": "R",
"aa_start": 1667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6137,
"cdna_start": 5091,
"cds_end": null,
"cds_length": 5166,
"cds_start": 5001,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001406677.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5001G>A",
"hgvs_p": "p.Arg1667Arg",
"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": "R",
"aa_end": null,
"aa_length": 1704,
"aa_ref": "R",
"aa_start": 1650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6106,
"cdna_start": 5060,
"cds_end": null,
"cds_length": 5115,
"cds_start": 4950,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001318827.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4950G>A",
"hgvs_p": "p.Arg1650Arg",
"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": "R",
"aa_end": null,
"aa_length": 1704,
"aa_ref": "R",
"aa_start": 1650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5287,
"cdna_start": 5031,
"cds_end": null,
"cds_length": 5115,
"cds_start": 4950,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000439673.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4950G>A",
"hgvs_p": "p.Arg1650Arg",
"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": "R",
"aa_end": null,
"aa_length": 1703,
"aa_ref": "R",
"aa_start": 1649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6103,
"cdna_start": 5057,
"cds_end": null,
"cds_length": 5112,
"cds_start": 4947,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001406678.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4947G>A",
"hgvs_p": "p.Arg1649Arg",
"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": "R",
"aa_end": null,
"aa_length": 1703,
"aa_ref": "R",
"aa_start": 1649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5324,
"cdna_start": 5057,
"cds_end": null,
"cds_length": 5112,
"cds_start": 4947,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000920525.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4947G>A",
"hgvs_p": "p.Arg1649Arg",
"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": "R",
"aa_end": null,
"aa_length": 1701,
"aa_ref": "R",
"aa_start": 1647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5305,
"cdna_start": 5039,
"cds_end": null,
"cds_length": 5106,
"cds_start": 4941,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000941765.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4941G>A",
"hgvs_p": "p.Arg1647Arg",
"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": "R",
"aa_end": null,
"aa_length": 1700,
"aa_ref": "R",
"aa_start": 1646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5315,
"cdna_start": 5048,
"cds_end": null,
"cds_length": 5103,
"cds_start": 4938,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000903283.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4938G>A",
"hgvs_p": "p.Arg1646Arg",
"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": "R",
"aa_end": null,
"aa_length": 1700,
"aa_ref": "R",
"aa_start": 1646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5304,
"cdna_start": 5047,
"cds_end": null,
"cds_length": 5103,
"cds_start": 4938,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000920526.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4938G>A",
"hgvs_p": "p.Arg1646Arg",
"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": "R",
"aa_end": null,
"aa_length": 1693,
"aa_ref": "R",
"aa_start": 1639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5267,
"cdna_start": 5002,
"cds_end": null,
"cds_length": 5082,
"cds_start": 4917,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000903290.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4917G>A",
"hgvs_p": "p.Arg1639Arg",
"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": "R",
"aa_end": null,
"aa_length": 1692,
"aa_ref": "R",
"aa_start": 1638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6050,
"cdna_start": 5004,
"cds_end": null,
"cds_length": 5079,
"cds_start": 4914,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001318829.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4914G>A",
"hgvs_p": "p.Arg1638Arg",
"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": "R",
"aa_end": null,
"aa_length": 1692,
"aa_ref": "R",
"aa_start": 1638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5264,
"cdna_start": 5009,
"cds_end": null,
"cds_length": 5079,
"cds_start": 4914,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000382538.10",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4914G>A",
"hgvs_p": "p.Arg1638Arg",
"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": "R",
"aa_end": null,
"aa_length": 1692,
"aa_ref": "R",
"aa_start": 1638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5290,
"cdna_start": 5024,
"cds_end": null,
"cds_length": 5079,
"cds_start": 4914,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000941764.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4914G>A",
"hgvs_p": "p.Arg1638Arg",
"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": "R",
"aa_end": null,
"aa_length": 1691,
"aa_ref": "R",
"aa_start": 1637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6047,
"cdna_start": 5001,
"cds_end": null,
"cds_length": 5076,
"cds_start": 4911,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001406679.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4911G>A",
"hgvs_p": "p.Arg1637Arg",
"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": "R",
"aa_end": null,
"aa_length": 1607,
"aa_ref": "R",
"aa_start": 1553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6631,
"cdna_start": 5585,
"cds_end": null,
"cds_length": 4824,
"cds_start": 4659,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_001406680.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4659G>A",
"hgvs_p": "p.Arg1553Arg",
"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": "R",
"aa_end": null,
"aa_length": 1587,
"aa_ref": "R",
"aa_start": 1533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6200,
"cdna_start": 5154,
"cds_end": null,
"cds_length": 4764,
"cds_start": 4599,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001406681.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4599G>A",
"hgvs_p": "p.Arg1533Arg",
"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": "R",
"aa_end": null,
"aa_length": 1584,
"aa_ref": "R",
"aa_start": 1530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5972,
"cdna_start": 4926,
"cds_end": null,
"cds_length": 4755,
"cds_start": 4590,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001406682.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4590G>A",
"hgvs_p": "p.Arg1530Arg",
"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": "R",
"aa_end": null,
"aa_length": 1584,
"aa_ref": "R",
"aa_start": 1530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6562,
"cdna_start": 5516,
"cds_end": null,
"cds_length": 4755,
"cds_start": 4590,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001406683.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4590G>A",
"hgvs_p": "p.Arg1530Arg",
"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": "R",
"aa_end": null,
"aa_length": 1583,
"aa_ref": "R",
"aa_start": 1529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5969,
"cdna_start": 4923,
"cds_end": null,
"cds_length": 4752,
"cds_start": 4587,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001406684.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4587G>A",
"hgvs_p": "p.Arg1529Arg",
"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": "R",
"aa_end": null,
"aa_length": 1563,
"aa_ref": "R",
"aa_start": 1509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5909,
"cdna_start": 4863,
"cds_end": null,
"cds_length": 4692,
"cds_start": 4527,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001318831.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4527G>A",
"hgvs_p": "p.Arg1509Arg",
"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": "R",
"aa_end": null,
"aa_length": 1541,
"aa_ref": "R",
"aa_start": 1487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5843,
"cdna_start": 4797,
"cds_end": null,
"cds_length": 4626,
"cds_start": 4461,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001406685.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4461G>A",
"hgvs_p": "p.Arg1487Arg",
"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": "R",
"aa_end": null,
"aa_length": 1541,
"aa_ref": "R",
"aa_start": 1487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5676,
"cdna_start": 4630,
"cds_end": null,
"cds_length": 4626,
"cds_start": 4461,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001406686.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4461G>A",
"hgvs_p": "p.Arg1487Arg",
"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": "R",
"aa_end": null,
"aa_length": 1540,
"aa_ref": "R",
"aa_start": 1486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6430,
"cdna_start": 5384,
"cds_end": null,
"cds_length": 4623,
"cds_start": 4458,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001406687.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4458G>A",
"hgvs_p": "p.Arg1486Arg",
"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": "R",
"aa_end": null,
"aa_length": 1540,
"aa_ref": "R",
"aa_start": 1486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5840,
"cdna_start": 4794,
"cds_end": null,
"cds_length": 4623,
"cds_start": 4458,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001406688.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.4458G>A",
"hgvs_p": "p.Arg1486Arg",
"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": "R",
"aa_end": null,
"aa_length": 1336,
"aa_ref": "R",
"aa_start": 1282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6433,
"cdna_start": 5387,
"cds_end": null,
"cds_length": 4011,
"cds_start": 3846,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_001406689.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3846G>A",
"hgvs_p": "p.Arg1282Arg",
"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": "R",
"aa_end": null,
"aa_length": 1316,
"aa_ref": "R",
"aa_start": 1262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6373,
"cdna_start": 5327,
"cds_end": null,
"cds_length": 3951,
"cds_start": 3786,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_001406690.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3786G>A",
"hgvs_p": "p.Arg1262Arg",
"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": "R",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "R",
"aa_start": 1261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6370,
"cdna_start": 5324,
"cds_end": null,
"cds_length": 3948,
"cds_start": 3783,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_001406691.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3783G>A",
"hgvs_p": "p.Arg1261Arg",
"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": "R",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "R",
"aa_start": 1239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6304,
"cdna_start": 5258,
"cds_end": null,
"cds_length": 3882,
"cds_start": 3717,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001406692.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3717G>A",
"hgvs_p": "p.Arg1239Arg",
"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": "R",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "R",
"aa_start": 1239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6610,
"cdna_start": 5564,
"cds_end": null,
"cds_length": 3882,
"cds_start": 3717,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001406693.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3717G>A",
"hgvs_p": "p.Arg1239Arg",
"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": "R",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "R",
"aa_start": 1239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6185,
"cdna_start": 5139,
"cds_end": null,
"cds_length": 3882,
"cds_start": 3717,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001406694.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3717G>A",
"hgvs_p": "p.Arg1239Arg",
"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": "R",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "R",
"aa_start": 1238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6182,
"cdna_start": 5136,
"cds_end": null,
"cds_length": 3879,
"cds_start": 3714,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001406695.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3714G>A",
"hgvs_p": "p.Arg1238Arg",
"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": "R",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "R",
"aa_start": 1238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6289,
"cdna_start": 5243,
"cds_end": null,
"cds_length": 3879,
"cds_start": 3714,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001406696.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3714G>A",
"hgvs_p": "p.Arg1238Arg",
"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": "R",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "R",
"aa_start": 1238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6301,
"cdna_start": 5255,
"cds_end": null,
"cds_length": 3879,
"cds_start": 3714,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001406697.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3714G>A",
"hgvs_p": "p.Arg1238Arg",
"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": "R",
"aa_end": null,
"aa_length": 1206,
"aa_ref": "R",
"aa_start": 1152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6219,
"cdna_start": 5173,
"cds_end": null,
"cds_length": 3621,
"cds_start": 3456,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001406698.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.3456G>A",
"hgvs_p": "p.Arg1152Arg",
"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": "R",
"aa_end": null,
"aa_length": 1825,
"aa_ref": "R",
"aa_start": 1771,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6469,
"cdna_start": 5423,
"cds_end": null,
"cds_length": 5478,
"cds_start": 5313,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "XM_011522636.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5313G>A",
"hgvs_p": "p.Arg1771Arg",
"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": "R",
"aa_end": null,
"aa_length": 1824,
"aa_ref": "R",
"aa_start": 1770,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6466,
"cdna_start": 5420,
"cds_end": null,
"cds_length": 5475,
"cds_start": 5310,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "XM_011522637.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5310G>A",
"hgvs_p": "p.Arg1770Arg",
"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": "R",
"aa_end": null,
"aa_length": 1788,
"aa_ref": "R",
"aa_start": 1734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6358,
"cdna_start": 5312,
"cds_end": null,
"cds_length": 5367,
"cds_start": 5202,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "XM_011522638.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5202G>A",
"hgvs_p": "p.Arg1734Arg",
"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": "R",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "R",
"aa_start": 1728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6340,
"cdna_start": 5294,
"cds_end": null,
"cds_length": 5349,
"cds_start": 5184,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "XM_011522639.3",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "c.5184G>A",
"hgvs_p": "p.Arg1728Arg",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000497886.5",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.2982G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000568566.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*3608G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000569110.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*533G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000569930.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.3141G>A",
"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": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000642791.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.856G>A",
"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": 3123,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000643426.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.2907G>A",
"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": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6666,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000644417.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*5772G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000645024.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.3343G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000646464.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*8008G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000646634.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.4074G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000646674.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.2511G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000647042.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.2482G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000647180.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.2372G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000715163.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.6036G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NR_176225.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.5211G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NR_176226.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.5459G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NR_176227.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.5387G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NR_176228.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.5208G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NR_176229.1",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.5133G>A",
"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": 38,
"exon_rank_end": null,
"feature": "ENST00000568566.6",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*3608G>A",
"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": 10,
"exon_rank_end": null,
"feature": "ENST00000569110.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*533G>A",
"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": 41,
"exon_rank_end": null,
"feature": "ENST00000644417.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*5772G>A",
"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": 34,
"exon_rank_end": null,
"feature": "ENST00000646464.2",
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"hgvs_c": "n.*8008G>A",
"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
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999992721349028,
"dbsnp": "rs1060500945",
"effect": "splice_region_variant,synonymous_variant",
"frequency_reference_population": 0.000002739182,
"gene_hgnc_id": 12363,
"gene_symbol": "TSC2",
"gnomad_exomes_ac": 4,
"gnomad_exomes_af": 0.00000273918,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": "Tuberous sclerosis 2|not provided|Hereditary cancer-predisposing syndrome",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.885,
"pos": 2088325,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Pathogenic",
"splice_score_selected": 0.9739999771118164,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Uncertain_significance",
"spliceai_max_score": 0.31,
"transcript": "NM_000548.5"
}
]
}