← 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: 16-2088267-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2088267&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2088267,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000219476.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5201A>C",
"hgvs_p": "p.Asp1734Ala",
"transcript": "NM_000548.5",
"protein_id": "NP_000539.2",
"transcript_support_level": null,
"aa_start": 1734,
"aa_end": null,
"aa_length": 1807,
"cds_start": 5201,
"cds_end": null,
"cds_length": 5424,
"cdna_start": 5311,
"cdna_end": null,
"cdna_length": 6415,
"mane_select": "ENST00000219476.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5201A>C",
"hgvs_p": "p.Asp1734Ala",
"transcript": "ENST00000219476.9",
"protein_id": "ENSP00000219476.3",
"transcript_support_level": 5,
"aa_start": 1734,
"aa_end": null,
"aa_length": 1807,
"cds_start": 5201,
"cds_end": null,
"cds_length": 5424,
"cdna_start": 5311,
"cdna_end": null,
"cdna_length": 6415,
"mane_select": "NM_000548.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5132A>C",
"hgvs_p": "p.Asp1711Ala",
"transcript": "ENST00000350773.9",
"protein_id": "ENSP00000344383.4",
"transcript_support_level": 1,
"aa_start": 1711,
"aa_end": null,
"aa_length": 1784,
"cds_start": 5132,
"cds_end": null,
"cds_length": 5355,
"cdna_start": 5207,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5000A>C",
"hgvs_p": "p.Asp1667Ala",
"transcript": "ENST00000401874.7",
"protein_id": "ENSP00000384468.2",
"transcript_support_level": 1,
"aa_start": 1667,
"aa_end": null,
"aa_length": 1740,
"cds_start": 5000,
"cds_end": null,
"cds_length": 5223,
"cdna_start": 5106,
"cdna_end": null,
"cdna_length": 5437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*4368A>C",
"hgvs_p": null,
"transcript": "ENST00000439117.6",
"protein_id": "ENSP00000406980.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*4368A>C",
"hgvs_p": null,
"transcript": "ENST00000439117.6",
"protein_id": "ENSP00000406980.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5291A>C",
"hgvs_p": "p.Asp1764Ala",
"transcript": "ENST00000645186.2",
"protein_id": "ENSP00000495110.2",
"transcript_support_level": null,
"aa_start": 1764,
"aa_end": null,
"aa_length": 1837,
"cds_start": 5291,
"cds_end": null,
"cds_length": 5514,
"cdna_start": 5401,
"cdna_end": null,
"cdna_length": 6505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5198A>C",
"hgvs_p": "p.Asp1733Ala",
"transcript": "NM_001406663.1",
"protein_id": "NP_001393592.1",
"transcript_support_level": null,
"aa_start": 1733,
"aa_end": null,
"aa_length": 1806,
"cds_start": 5198,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 5308,
"cdna_end": null,
"cdna_length": 6412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5198A>C",
"hgvs_p": "p.Asp1733Ala",
"transcript": "ENST00000642365.2",
"protein_id": "ENSP00000495459.2",
"transcript_support_level": null,
"aa_start": 1733,
"aa_end": null,
"aa_length": 1806,
"cds_start": 5198,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 5269,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5195A>C",
"hgvs_p": "p.Asp1732Ala",
"transcript": "ENST00000646388.1",
"protein_id": "ENSP00000495921.1",
"transcript_support_level": null,
"aa_start": 1732,
"aa_end": null,
"aa_length": 1805,
"cds_start": 5195,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 5281,
"cdna_end": null,
"cdna_length": 5614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5132A>C",
"hgvs_p": "p.Asp1711Ala",
"transcript": "NM_001114382.3",
"protein_id": "NP_001107854.1",
"transcript_support_level": null,
"aa_start": 1711,
"aa_end": null,
"aa_length": 1784,
"cds_start": 5132,
"cds_end": null,
"cds_length": 5355,
"cdna_start": 5242,
"cdna_end": null,
"cdna_length": 6346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5129A>C",
"hgvs_p": "p.Asp1710Ala",
"transcript": "NM_001406664.1",
"protein_id": "NP_001393593.1",
"transcript_support_level": null,
"aa_start": 1710,
"aa_end": null,
"aa_length": 1783,
"cds_start": 5129,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 5239,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5126A>C",
"hgvs_p": "p.Asp1709Ala",
"transcript": "ENST00000643946.1",
"protein_id": "ENSP00000495927.1",
"transcript_support_level": null,
"aa_start": 1709,
"aa_end": null,
"aa_length": 1782,
"cds_start": 5126,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 5244,
"cdna_end": null,
"cdna_length": 6344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5123A>C",
"hgvs_p": "p.Asp1708Ala",
"transcript": "NM_001406665.1",
"protein_id": "NP_001393594.1",
"transcript_support_level": null,
"aa_start": 1708,
"aa_end": null,
"aa_length": 1781,
"cds_start": 5123,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 5233,
"cdna_end": null,
"cdna_length": 6337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5120A>C",
"hgvs_p": "p.Asp1707Ala",
"transcript": "ENST00000644399.1",
"protein_id": "ENSP00000493990.1",
"transcript_support_level": null,
"aa_start": 1707,
"aa_end": null,
"aa_length": 1780,
"cds_start": 5120,
"cds_end": null,
"cds_length": 5343,
"cdna_start": 5122,
"cdna_end": null,
"cdna_length": 5445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5093A>C",
"hgvs_p": "p.Asp1698Ala",
"transcript": "NM_001406667.1",
"protein_id": "NP_001393596.1",
"transcript_support_level": null,
"aa_start": 1698,
"aa_end": null,
"aa_length": 1771,
"cds_start": 5093,
"cds_end": null,
"cds_length": 5316,
"cdna_start": 5203,
"cdna_end": null,
"cdna_length": 6307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5090A>C",
"hgvs_p": "p.Asp1697Ala",
"transcript": "NM_001406668.1",
"protein_id": "NP_001393597.1",
"transcript_support_level": null,
"aa_start": 1697,
"aa_end": null,
"aa_length": 1770,
"cds_start": 5090,
"cds_end": null,
"cds_length": 5313,
"cdna_start": 5200,
"cdna_end": null,
"cdna_length": 6304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5087A>C",
"hgvs_p": "p.Asp1696Ala",
"transcript": "ENST00000644329.1",
"protein_id": "ENSP00000496611.1",
"transcript_support_level": null,
"aa_start": 1696,
"aa_end": null,
"aa_length": 1769,
"cds_start": 5087,
"cds_end": null,
"cds_length": 5310,
"cdna_start": 5149,
"cdna_end": null,
"cdna_length": 5453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5072A>C",
"hgvs_p": "p.Asp1691Ala",
"transcript": "NM_021055.3",
"protein_id": "NP_066399.2",
"transcript_support_level": null,
"aa_start": 1691,
"aa_end": null,
"aa_length": 1764,
"cds_start": 5072,
"cds_end": null,
"cds_length": 5295,
"cdna_start": 5182,
"cdna_end": null,
"cdna_length": 6286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5072A>C",
"hgvs_p": "p.Asp1691Ala",
"transcript": "ENST00000644043.1",
"protein_id": "ENSP00000496262.1",
"transcript_support_level": null,
"aa_start": 1691,
"aa_end": null,
"aa_length": 1764,
"cds_start": 5072,
"cds_end": null,
"cds_length": 5295,
"cdna_start": 5126,
"cdna_end": null,
"cdna_length": 5457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5069A>C",
"hgvs_p": "p.Asp1690Ala",
"transcript": "NM_001370404.1",
"protein_id": "NP_001357333.1",
"transcript_support_level": null,
"aa_start": 1690,
"aa_end": null,
"aa_length": 1763,
"cds_start": 5069,
"cds_end": null,
"cds_length": 5292,
"cdna_start": 5179,
"cdna_end": null,
"cdna_length": 6283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5069A>C",
"hgvs_p": "p.Asp1690Ala",
"transcript": "ENST00000642936.1",
"protein_id": "ENSP00000494514.1",
"transcript_support_level": null,
"aa_start": 1690,
"aa_end": null,
"aa_length": 1763,
"cds_start": 5069,
"cds_end": null,
"cds_length": 5292,
"cdna_start": 5178,
"cdna_end": null,
"cdna_length": 5507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5060A>C",
"hgvs_p": "p.Asp1687Ala",
"transcript": "NM_001370405.1",
"protein_id": "NP_001357334.1",
"transcript_support_level": null,
"aa_start": 1687,
"aa_end": null,
"aa_length": 1760,
"cds_start": 5060,
"cds_end": null,
"cds_length": 5283,
"cdna_start": 5170,
"cdna_end": null,
"cdna_length": 6274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5060A>C",
"hgvs_p": "p.Asp1687Ala",
"transcript": "ENST00000642561.1",
"protein_id": "ENSP00000495099.1",
"transcript_support_level": null,
"aa_start": 1687,
"aa_end": null,
"aa_length": 1760,
"cds_start": 5060,
"cds_end": null,
"cds_length": 5283,
"cdna_start": 5112,
"cdna_end": null,
"cdna_length": 5396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5048A>C",
"hgvs_p": "p.Asp1683Ala",
"transcript": "ENST00000642206.2",
"protein_id": "ENSP00000495146.2",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1756,
"cds_start": 5048,
"cds_end": null,
"cds_length": 5271,
"cdna_start": 5164,
"cdna_end": null,
"cdna_length": 5485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5033A>C",
"hgvs_p": "p.Asp1678Ala",
"transcript": "NM_001318832.2",
"protein_id": "NP_001305761.1",
"transcript_support_level": null,
"aa_start": 1678,
"aa_end": null,
"aa_length": 1751,
"cds_start": 5033,
"cds_end": null,
"cds_length": 5256,
"cdna_start": 5101,
"cdna_end": null,
"cdna_length": 6205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5033A>C",
"hgvs_p": "p.Asp1678Ala",
"transcript": "ENST00000568454.6",
"protein_id": "ENSP00000454487.1",
"transcript_support_level": 2,
"aa_start": 1678,
"aa_end": null,
"aa_length": 1751,
"cds_start": 5033,
"cds_end": null,
"cds_length": 5256,
"cdna_start": 5101,
"cdna_end": null,
"cdna_length": 5429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5021A>C",
"hgvs_p": "p.Asp1674Ala",
"transcript": "NM_001406670.1",
"protein_id": "NP_001393599.1",
"transcript_support_level": null,
"aa_start": 1674,
"aa_end": null,
"aa_length": 1747,
"cds_start": 5021,
"cds_end": null,
"cds_length": 5244,
"cdna_start": 5131,
"cdna_end": null,
"cdna_length": 6235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5003A>C",
"hgvs_p": "p.Asp1668Ala",
"transcript": "NM_001363528.2",
"protein_id": "NP_001350457.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1741,
"cds_start": 5003,
"cds_end": null,
"cds_length": 5226,
"cdna_start": 5113,
"cdna_end": null,
"cdna_length": 6217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5003A>C",
"hgvs_p": "p.Asp1668Ala",
"transcript": "ENST00000642797.1",
"protein_id": "ENSP00000493846.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1741,
"cds_start": 5003,
"cds_end": null,
"cds_length": 5226,
"cdna_start": 5057,
"cdna_end": null,
"cdna_length": 5388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5000A>C",
"hgvs_p": "p.Asp1667Ala",
"transcript": "NM_001077183.3",
"protein_id": "NP_001070651.1",
"transcript_support_level": null,
"aa_start": 1667,
"aa_end": null,
"aa_length": 1740,
"cds_start": 5000,
"cds_end": null,
"cds_length": 5223,
"cdna_start": 5110,
"cdna_end": null,
"cdna_length": 6214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4997A>C",
"hgvs_p": "p.Asp1666Ala",
"transcript": "ENST00000644335.1",
"protein_id": "ENSP00000496317.1",
"transcript_support_level": null,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1739,
"cds_start": 4997,
"cds_end": null,
"cds_length": 5220,
"cdna_start": 5097,
"cdna_end": null,
"cdna_length": 5433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4994A>C",
"hgvs_p": "p.Asp1665Ala",
"transcript": "ENST00000643088.1",
"protein_id": "ENSP00000494747.1",
"transcript_support_level": null,
"aa_start": 1665,
"aa_end": null,
"aa_length": 1738,
"cds_start": 4994,
"cds_end": null,
"cds_length": 5217,
"cdna_start": 5112,
"cdna_end": null,
"cdna_length": 5970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4991A>C",
"hgvs_p": "p.Asp1664Ala",
"transcript": "NM_001406671.1",
"protein_id": "NP_001393600.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1737,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5214,
"cdna_start": 5101,
"cdna_end": null,
"cdna_length": 6205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4988A>C",
"hgvs_p": "p.Asp1663Ala",
"transcript": "NM_001406673.1",
"protein_id": "NP_001393602.1",
"transcript_support_level": null,
"aa_start": 1663,
"aa_end": null,
"aa_length": 1736,
"cds_start": 4988,
"cds_end": null,
"cds_length": 5211,
"cdna_start": 5098,
"cdna_end": null,
"cdna_length": 6202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4985A>C",
"hgvs_p": "p.Asp1662Ala",
"transcript": "NM_001406675.1",
"protein_id": "NP_001393604.1",
"transcript_support_level": null,
"aa_start": 1662,
"aa_end": null,
"aa_length": 1735,
"cds_start": 4985,
"cds_end": null,
"cds_length": 5208,
"cdna_start": 5075,
"cdna_end": null,
"cdna_length": 6179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4982A>C",
"hgvs_p": "p.Asp1661Ala",
"transcript": "NM_001406676.1",
"protein_id": "NP_001393605.1",
"transcript_support_level": null,
"aa_start": 1661,
"aa_end": null,
"aa_length": 1734,
"cds_start": 4982,
"cds_end": null,
"cds_length": 5205,
"cdna_start": 5072,
"cdna_end": null,
"cdna_length": 6176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4943A>C",
"hgvs_p": "p.Asp1648Ala",
"transcript": "NM_001406677.1",
"protein_id": "NP_001393606.1",
"transcript_support_level": null,
"aa_start": 1648,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4943,
"cds_end": null,
"cds_length": 5166,
"cdna_start": 5033,
"cdna_end": null,
"cdna_length": 6137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4892A>C",
"hgvs_p": "p.Asp1631Ala",
"transcript": "NM_001318827.2",
"protein_id": "NP_001305756.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4892,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5002,
"cdna_end": null,
"cdna_length": 6106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4892A>C",
"hgvs_p": "p.Asp1631Ala",
"transcript": "ENST00000439673.6",
"protein_id": "ENSP00000399232.2",
"transcript_support_level": 2,
"aa_start": 1631,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4892,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 4973,
"cdna_end": null,
"cdna_length": 5287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4889A>C",
"hgvs_p": "p.Asp1630Ala",
"transcript": "NM_001406678.1",
"protein_id": "NP_001393607.1",
"transcript_support_level": null,
"aa_start": 1630,
"aa_end": null,
"aa_length": 1703,
"cds_start": 4889,
"cds_end": null,
"cds_length": 5112,
"cdna_start": 4999,
"cdna_end": null,
"cdna_length": 6103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4856A>C",
"hgvs_p": "p.Asp1619Ala",
"transcript": "NM_001318829.2",
"protein_id": "NP_001305758.1",
"transcript_support_level": null,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1692,
"cds_start": 4856,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 4946,
"cdna_end": null,
"cdna_length": 6050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4856A>C",
"hgvs_p": "p.Asp1619Ala",
"transcript": "ENST00000382538.10",
"protein_id": "ENSP00000371978.6",
"transcript_support_level": 2,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1692,
"cds_start": 4856,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 4951,
"cdna_end": null,
"cdna_length": 5264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4853A>C",
"hgvs_p": "p.Asp1618Ala",
"transcript": "NM_001406679.1",
"protein_id": "NP_001393608.1",
"transcript_support_level": null,
"aa_start": 1618,
"aa_end": null,
"aa_length": 1691,
"cds_start": 4853,
"cds_end": null,
"cds_length": 5076,
"cdna_start": 4943,
"cdna_end": null,
"cdna_length": 6047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4601A>C",
"hgvs_p": "p.Asp1534Ala",
"transcript": "NM_001406680.1",
"protein_id": "NP_001393609.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1607,
"cds_start": 4601,
"cds_end": null,
"cds_length": 4824,
"cdna_start": 5527,
"cdna_end": null,
"cdna_length": 6631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4541A>C",
"hgvs_p": "p.Asp1514Ala",
"transcript": "NM_001406681.1",
"protein_id": "NP_001393610.1",
"transcript_support_level": null,
"aa_start": 1514,
"aa_end": null,
"aa_length": 1587,
"cds_start": 4541,
"cds_end": null,
"cds_length": 4764,
"cdna_start": 5096,
"cdna_end": null,
"cdna_length": 6200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4532A>C",
"hgvs_p": "p.Asp1511Ala",
"transcript": "NM_001406682.1",
"protein_id": "NP_001393611.1",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 1584,
"cds_start": 4532,
"cds_end": null,
"cds_length": 4755,
"cdna_start": 4868,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4532A>C",
"hgvs_p": "p.Asp1511Ala",
"transcript": "NM_001406683.1",
"protein_id": "NP_001393612.1",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 1584,
"cds_start": 4532,
"cds_end": null,
"cds_length": 4755,
"cdna_start": 5458,
"cdna_end": null,
"cdna_length": 6562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4529A>C",
"hgvs_p": "p.Asp1510Ala",
"transcript": "NM_001406684.1",
"protein_id": "NP_001393613.1",
"transcript_support_level": null,
"aa_start": 1510,
"aa_end": null,
"aa_length": 1583,
"cds_start": 4529,
"cds_end": null,
"cds_length": 4752,
"cdna_start": 4865,
"cdna_end": null,
"cdna_length": 5969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4469A>C",
"hgvs_p": "p.Asp1490Ala",
"transcript": "NM_001318831.2",
"protein_id": "NP_001305760.1",
"transcript_support_level": null,
"aa_start": 1490,
"aa_end": null,
"aa_length": 1563,
"cds_start": 4469,
"cds_end": null,
"cds_length": 4692,
"cdna_start": 4805,
"cdna_end": null,
"cdna_length": 5909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4403A>C",
"hgvs_p": "p.Asp1468Ala",
"transcript": "NM_001406685.1",
"protein_id": "NP_001393614.1",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 1541,
"cds_start": 4403,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 4739,
"cdna_end": null,
"cdna_length": 5843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4403A>C",
"hgvs_p": "p.Asp1468Ala",
"transcript": "NM_001406686.1",
"protein_id": "NP_001393615.1",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 1541,
"cds_start": 4403,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 4572,
"cdna_end": null,
"cdna_length": 5676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4400A>C",
"hgvs_p": "p.Asp1467Ala",
"transcript": "NM_001406687.1",
"protein_id": "NP_001393616.1",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1540,
"cds_start": 4400,
"cds_end": null,
"cds_length": 4623,
"cdna_start": 5326,
"cdna_end": null,
"cdna_length": 6430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4400A>C",
"hgvs_p": "p.Asp1467Ala",
"transcript": "NM_001406688.1",
"protein_id": "NP_001393617.1",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1540,
"cds_start": 4400,
"cds_end": null,
"cds_length": 4623,
"cdna_start": 4736,
"cdna_end": null,
"cdna_length": 5840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.3788A>C",
"hgvs_p": "p.Asp1263Ala",
"transcript": "NM_001406689.1",
"protein_id": "NP_001393618.1",
"transcript_support_level": null,
"aa_start": 1263,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3788,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 5329,
"cdna_end": null,
"cdna_length": 6433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.3728A>C",
"hgvs_p": "p.Asp1243Ala",
"transcript": "NM_001406690.1",
"protein_id": "NP_001393619.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3728,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 5269,
"cdna_end": null,
"cdna_length": 6373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.3725A>C",
"hgvs_p": "p.Asp1242Ala",
"transcript": "NM_001406691.1",
"protein_id": "NP_001393620.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3725,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 5266,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.3659A>C",
"hgvs_p": "p.Asp1220Ala",
"transcript": "NM_001406692.1",
"protein_id": "NP_001393621.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1293,
"cds_start": 3659,
"cds_end": null,
"cds_length": 3882,
"cdna_start": 5200,
"cdna_end": null,
"cdna_length": 6304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.3659A>C",
"hgvs_p": "p.Asp1220Ala",
"transcript": "NM_001406693.1",
"protein_id": "NP_001393622.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1293,
"cds_start": 3659,
"cds_end": null,
"cds_length": 3882,
"cdna_start": 5506,
"cdna_end": null,
"cdna_length": 6610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.3659A>C",
"hgvs_p": "p.Asp1220Ala",
"transcript": "NM_001406694.1",
"protein_id": "NP_001393623.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1293,
"cds_start": 3659,
"cds_end": null,
"cds_length": 3882,
"cdna_start": 5081,
"cdna_end": null,
"cdna_length": 6185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.3656A>C",
"hgvs_p": "p.Asp1219Ala",
"transcript": "NM_001406695.1",
"protein_id": "NP_001393624.1",
"transcript_support_level": null,
"aa_start": 1219,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3656,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 5078,
"cdna_end": null,
"cdna_length": 6182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.3656A>C",
"hgvs_p": "p.Asp1219Ala",
"transcript": "NM_001406696.1",
"protein_id": "NP_001393625.1",
"transcript_support_level": null,
"aa_start": 1219,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3656,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 5185,
"cdna_end": null,
"cdna_length": 6289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.3656A>C",
"hgvs_p": "p.Asp1219Ala",
"transcript": "NM_001406697.1",
"protein_id": "NP_001393626.1",
"transcript_support_level": null,
"aa_start": 1219,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3656,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 5197,
"cdna_end": null,
"cdna_length": 6301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.3398A>C",
"hgvs_p": "p.Asp1133Ala",
"transcript": "NM_001406698.1",
"protein_id": "NP_001393627.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3398,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 5115,
"cdna_end": null,
"cdna_length": 6219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5255A>C",
"hgvs_p": "p.Asp1752Ala",
"transcript": "XM_011522636.3",
"protein_id": "XP_011520938.1",
"transcript_support_level": null,
"aa_start": 1752,
"aa_end": null,
"aa_length": 1825,
"cds_start": 5255,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 5365,
"cdna_end": null,
"cdna_length": 6469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5252A>C",
"hgvs_p": "p.Asp1751Ala",
"transcript": "XM_011522637.3",
"protein_id": "XP_011520939.1",
"transcript_support_level": null,
"aa_start": 1751,
"aa_end": null,
"aa_length": 1824,
"cds_start": 5252,
"cds_end": null,
"cds_length": 5475,
"cdna_start": 5362,
"cdna_end": null,
"cdna_length": 6466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5144A>C",
"hgvs_p": "p.Asp1715Ala",
"transcript": "XM_011522638.3",
"protein_id": "XP_011520940.3",
"transcript_support_level": null,
"aa_start": 1715,
"aa_end": null,
"aa_length": 1788,
"cds_start": 5144,
"cds_end": null,
"cds_length": 5367,
"cdna_start": 5254,
"cdna_end": null,
"cdna_length": 6358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5126A>C",
"hgvs_p": "p.Asp1709Ala",
"transcript": "XM_011522639.3",
"protein_id": "XP_011520941.1",
"transcript_support_level": null,
"aa_start": 1709,
"aa_end": null,
"aa_length": 1782,
"cds_start": 5126,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 5236,
"cdna_end": null,
"cdna_length": 6340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.2924A>C",
"hgvs_p": null,
"transcript": "ENST00000497886.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*3550A>C",
"hgvs_p": null,
"transcript": "ENST00000568566.6",
"protein_id": "ENSP00000455997.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*475A>C",
"hgvs_p": null,
"transcript": "ENST00000569110.2",
"protein_id": "ENSP00000455817.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.3083A>C",
"hgvs_p": null,
"transcript": "ENST00000569930.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.798A>C",
"hgvs_p": null,
"transcript": "ENST00000642791.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.2849A>C",
"hgvs_p": null,
"transcript": "ENST00000643426.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*5714A>C",
"hgvs_p": null,
"transcript": "ENST00000644417.2",
"protein_id": "ENSP00000493912.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.3285A>C",
"hgvs_p": null,
"transcript": "ENST00000645024.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*7950A>C",
"hgvs_p": null,
"transcript": "ENST00000646464.2",
"protein_id": "ENSP00000496610.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.4016A>C",
"hgvs_p": null,
"transcript": "ENST00000646634.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.2453A>C",
"hgvs_p": null,
"transcript": "ENST00000646674.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.2424A>C",
"hgvs_p": null,
"transcript": "ENST00000647042.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.2314A>C",
"hgvs_p": null,
"transcript": "ENST00000647180.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.5978A>C",
"hgvs_p": null,
"transcript": "ENST00000715163.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.5153A>C",
"hgvs_p": null,
"transcript": "NR_176225.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.5401A>C",
"hgvs_p": null,
"transcript": "NR_176226.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.5329A>C",
"hgvs_p": null,
"transcript": "NR_176227.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.5150A>C",
"hgvs_p": null,
"transcript": "NR_176228.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.5075A>C",
"hgvs_p": null,
"transcript": "NR_176229.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*3550A>C",
"hgvs_p": null,
"transcript": "ENST00000568566.6",
"protein_id": "ENSP00000455997.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*475A>C",
"hgvs_p": null,
"transcript": "ENST00000569110.2",
"protein_id": "ENSP00000455817.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*5714A>C",
"hgvs_p": null,
"transcript": "ENST00000644417.2",
"protein_id": "ENSP00000493912.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*7950A>C",
"hgvs_p": null,
"transcript": "ENST00000646464.2",
"protein_id": "ENSP00000496610.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*227A>C",
"hgvs_p": null,
"transcript": "ENST00000643177.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*227A>C",
"hgvs_p": null,
"transcript": "ENST00000644278.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"dbsnp": "rs878854117",
"frequency_reference_population": 6.845536e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84554e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.875975489616394,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.863,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6808,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.07,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000219476.9",
"gene_symbol": "TSC2",
"hgnc_id": 12363,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5201A>C",
"hgvs_p": "p.Asp1734Ala"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Tuberous sclerosis 2,Tuberous sclerosis syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome|Tuberous sclerosis syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}