{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA014699", "communityStandardTitle": [ "NM_000548.5(TSC2):c.1385G>A (p.Arg462His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=59355[alleleid]", "alleleId": 59355, "preferredName": "NM_000548.5(TSC2):c.1385G>A (p.Arg462His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/50193", "RCV": [ "RCV000043462", "RCV000528206", "RCV001562608", "RCV002390182", "RCV003466897" ], "variationId": 50193 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2112996G>A?assembly=hg19", "id": "chr16:g.2112996G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2062995G>A?assembly=hg38", "id": "chr16:g.2062995G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/45494392", "rs": 45494392 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2062995-G-A?dataset=gnomad_r4", "id": "16-2062995-G-A", "variant": "16:2062995 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2062995, "referenceAllele": "G", "start": 2062994 } ], "hgvs": [ "NC_000016.10:g.2062995G>A", "CM000678.2:g.2062995G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2112996, "referenceAllele": "G", "start": 2112995 } ], "hgvs": [ "NC_000016.9:g.2112996G>A", "CM000678.1:g.2112996G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2052997, "referenceAllele": "G", "start": 2052996 } ], "hgvs": [ "NC_000016.8:g.2052997G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 18690, "referenceAllele": "G", "start": 18689 } ], "hgvs": [ "NG_005895.1:g.18690G>A", "LRG_487:g.18690G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000437" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1472, "endIntronDirection": "+", "endIntronOffset": 395, "referenceAllele": "G", "start": 1472, "startIntronDirection": "+", "startIntronOffset": 394 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568566.6:c.1361+395G>A" ], "proteinEffect": { "hgvs": "ENSP00000455997.2:n.1361+395G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914316" }, { "coordinates": [ { "allele": "A", "end": 1546, "referenceAllele": "G", "start": 1545 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642206.2:c.1430G>A" ], "proteinEffect": { "hgvs": "ENSP00000495146.2:p.Arg477His", "hgvsWellDefined": "ENSP00000495146.2:p.Arg477His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914400" }, { "coordinates": [ { "allele": "A", "end": 1456, "referenceAllele": "G", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.2:c.1385G>A" ], "proteinEffect": { "hgvs": "ENSP00000495459.2:p.Arg462His", "hgvsWellDefined": "ENSP00000495459.2:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914403" }, { "coordinates": [ { "allele": "A", "end": 1477, "referenceAllele": "G", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644417.2:c.*822G>A" ], "proteinEffect": { "hgvs": "ENSP00000493912.2:n.*822G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914414" }, { "coordinates": [ { "allele": "A", "end": 1328, "referenceAllele": "G", "start": 1327 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646464.2:c.*990G>A" ], "proteinEffect": { "hgvs": "ENSP00000496610.2:n.*990G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914421" }, { "coordinates": [ { "allele": "A", "end": 1495, "referenceAllele": "G", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.9:c.1385G>A" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Arg462His", "hgvsWellDefined": "ENSP00000219476.3:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS740437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.1385G>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.1385G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Arg462His" }, "RefSeq": { "hgvs": "NP_000539.2:p.Arg462His" } } } }, { "coordinates": [ { "allele": "A", "end": 1460, "referenceAllele": "G", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.9:c.1385G>A" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Arg462His", "hgvsWellDefined": "ENSP00000344383.4:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS748446" }, { "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.7:c.1385G>A" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Arg462His", "hgvsWellDefined": "ENSP00000384468.2:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "A", "end": 295, "referenceAllele": "G", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000463601.2:n.295G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756775" }, { "coordinates": [ { "allele": "A", "end": 555, "referenceAllele": "G", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000467949.2:n.555G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756917" }, { "coordinates": [ { "allele": "A", "end": 1486, "referenceAllele": "G", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.1418G>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Arg473His", "hgvsWellDefined": "ENSP00000454487.1:p.Arg473His" }, "referenceSequence": "http://reg.genome.network/refseq/RS760554" }, { "coordinates": [ { "allele": "A", "end": 42, "referenceAllele": "G", "start": 41 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.1:c.42G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766702" }, { "coordinates": [ { "allele": "A", "end": 1437, "referenceAllele": "G", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642561.1:c.1385G>A" ], "proteinEffect": { "hgvs": "ENSP00000495099.1:p.Arg462His", "hgvsWellDefined": "ENSP00000495099.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS766811" }, { "coordinates": [ { "allele": "A", "end": 1439, "referenceAllele": "G", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642797.1:c.1385G>A" ], "proteinEffect": { "hgvs": "ENSP00000493846.1:p.Arg462His", "hgvsWellDefined": "ENSP00000493846.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS766928" }, { "coordinates": [ { "allele": "A", "end": 1430, "referenceAllele": "G", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642812.1:n.1430G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766936" }, { "coordinates": [ { "allele": "A", "end": 1494, "referenceAllele": "G", "start": 1493 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642936.1:c.1385G>A" ], "proteinEffect": { "hgvs": "ENSP00000494514.1:p.Arg462His", "hgvsWellDefined": "ENSP00000494514.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS766999" }, { "coordinates": [ { "allele": "A", "end": 1503, "referenceAllele": "G", "start": 1502 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643088.1:c.1385G>A" ], "proteinEffect": { "hgvs": "ENSP00000494747.1:p.Arg462His", "hgvsWellDefined": "ENSP00000494747.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS767083" }, { "coordinates": [ { "allele": "A", "end": 3395, "referenceAllele": "G", "start": 3394 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643149.1:n.3395G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767117" }, { "coordinates": [ { "allele": "A", "end": 1684, "referenceAllele": "G", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643298.1:c.*887G>A" ], "proteinEffect": { "hgvs": "ENSP00000494393.1:n.*887G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767200" }, { "coordinates": [ { "allele": "A", "end": 1582, "referenceAllele": "G", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643745.1:c.*317G>A" ], "proteinEffect": { "hgvs": "ENSP00000495948.1:n.*317G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767447" }, { "coordinates": [ { "allele": "A", "end": 1503, "referenceAllele": "G", "start": 1502 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643946.1:c.1385G>A" ], "proteinEffect": { "hgvs": "ENSP00000495927.1:p.Arg462His", "hgvsWellDefined": "ENSP00000495927.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS767559" }, { "coordinates": [ { "allele": "A", "end": 1439, "referenceAllele": "G", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644043.1:c.1385G>A" ], "proteinEffect": { "hgvs": "ENSP00000496262.1:p.Arg462His", "hgvsWellDefined": "ENSP00000496262.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS767603" }, { "coordinates": [ { "allele": "A", "end": 1497, "referenceAllele": "G", "start": 1496 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644135.1:c.1385G>A" ], "proteinEffect": { "hgvs": "ENSP00000495644.1:p.Arg462His", "hgvsWellDefined": "ENSP00000495644.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS767651" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644222.1:n.1472G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767707" }, { "coordinates": [ { "allele": "A", "end": 1447, "referenceAllele": "G", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644329.1:c.1385G>A" ], "proteinEffect": { "hgvs": "ENSP00000496611.1:p.Arg462His", "hgvsWellDefined": "ENSP00000496611.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS767764" }, { "coordinates": [ { "allele": "A", "end": 1485, "referenceAllele": "G", "start": 1484 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644335.1:c.1385G>A" ], "proteinEffect": { "hgvs": "ENSP00000496317.1:p.Arg462His", "hgvsWellDefined": "ENSP00000496317.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS767767" }, { "coordinates": [ { "allele": "A", "end": 1378, "referenceAllele": "G", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644399.1:c.1378G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767800" }, { "coordinates": [ { "allele": "A", "end": 2559, "referenceAllele": "G", "start": 2558 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644665.1:n.2559G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767927" }, { "coordinates": [ { "allele": "A", "end": 377, "referenceAllele": "G", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644847.1:n.377G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768031" }, { "coordinates": [ { "allele": "A", "end": 2443, "referenceAllele": "G", "start": 2442 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645591.1:n.2443G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768448" }, { "coordinates": [ { "allele": "A", "end": 1471, "referenceAllele": "G", "start": 1470 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646388.1:c.1385G>A" ], "proteinEffect": { "hgvs": "ENSP00000495921.1:p.Arg462His", "hgvsWellDefined": "ENSP00000495921.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS768845" }, { "coordinates": [ { "allele": "A", "end": 398, "referenceAllele": "G", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646634.1:n.398G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768983" }, { "coordinates": [ { "allele": "A", "end": 3143, "referenceAllele": "G", "start": 3142 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647234.1:n.3143G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769302" }, { "coordinates": [ { "allele": "A", "end": 2021, "referenceAllele": "G", "start": 2020 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647242.1:n.2021G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769308" }, { "coordinates": [ { "allele": "A", "end": 2015, "referenceAllele": "G", "start": 2014 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.7:c.1385G>A" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Arg462His", "hgvsWellDefined": "ENSP00000219476.3:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247369" }, { "coordinates": [ { "allele": "A", "end": 1460, "referenceAllele": "G", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.8:c.1385G>A" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Arg462His", "hgvsWellDefined": "ENSP00000344383.4:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS246737" }, { "coordinates": [ { "allele": "A", "end": 1333, "referenceAllele": "G", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000382538.10:c.1238G>A" ], "proteinEffect": { "hgvs": "ENSP00000371978.6:p.Arg413His", "hgvsWellDefined": "ENSP00000371978.6:p.Arg413His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247352" }, { "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.6:c.1385G>A" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Arg462His", "hgvsWellDefined": "ENSP00000384468.2:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "A", "end": 1073, "referenceAllele": "G", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.*684G>A" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:n.*684G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "A", "end": 1355, "referenceAllele": "G", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.1274G>A" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Arg425His", "hgvsWellDefined": "ENSP00000399232.2:p.Arg425His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "A", "end": 548, "referenceAllele": "G", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000463601.1:n.548G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS307600" }, { "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "G", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000467949.1:c.539G>A" ], "proteinEffect": { "hgvs": "ENSP00000454997.1:p.Arg180His", "hgvsWellDefined": "ENSP00000454997.1:p.Arg180His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247339" }, { "coordinates": [ { "allele": "A", "end": 158, "referenceAllele": "G", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000490108.1:n.158G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS328021" }, { "coordinates": [ { "allele": "A", "end": 1486, "referenceAllele": "G", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.1418G>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Arg473His", "hgvsWellDefined": "ENSP00000454487.1:p.Arg473His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "coordinates": [ { "allele": "A", "end": 83, "endIntronDirection": "+", "endIntronOffset": 395, "referenceAllele": "G", "start": 83, "startIntronDirection": "+", "startIntronOffset": 394 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568566.5:c.83+395G>A" ], "proteinEffect": { "hgvs": "ENSP00000455997.1:n.83+395G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS380873" }, { "@id": "http://reg.genome.network/allele/PA263204", "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.1385G>A", "LRG_487t1:c.1385G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Arg462His", "hgvsWellDefined": "NP_000539.2:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "@id": "http://reg.genome.network/allele/PA2825435434", "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.1385G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Arg462His", "hgvsWellDefined": "NP_001070651.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS009932" }, { "@id": "http://reg.genome.network/allele/PA2825573331", "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.1:c.1385G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Arg462His", "hgvsWellDefined": "NP_001107854.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS011321" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255529.3:c.1385G>A" ], "proteinEffect": { "hgvs": "XP_005255586.2:p.Arg462His", "hgvsWellDefined": "XP_005255586.2:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.1385G>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Arg462His", "hgvsWellDefined": "XP_005255588.2:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.1385G>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Arg462His", "hgvsWellDefined": "XP_011520938.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.1385G>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Arg462His", "hgvsWellDefined": "XP_011520939.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "A", "end": 1433, "referenceAllele": "G", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.1274G>A" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Arg425His", "hgvsWellDefined": "XP_011520940.1:p.Arg425His" }, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.1385G>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Arg462His", "hgvsWellDefined": "XP_011520941.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.1385G>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Arg462His", "hgvsWellDefined": "XP_011520942.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "A", "end": 1433, "referenceAllele": "G", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.1274G>A" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Arg425His", "hgvsWellDefined": "XP_011520943.1:p.Arg425His" }, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "@id": "http://reg.genome.network/allele/PA263204", "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "G", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.1385G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Arg462His", "hgvsWellDefined": "NP_000539.2:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "@id": "http://reg.genome.network/allele/PA2825435434", "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "G", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.1385G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Arg462His", "hgvsWellDefined": "NP_001070651.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "@id": "http://reg.genome.network/allele/PA2825573331", "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "G", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.1385G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Arg462His", "hgvsWellDefined": "NP_001107854.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "@id": "http://reg.genome.network/allele/PA2827001281", "coordinates": [ { "allele": "A", "end": 1474, "referenceAllele": "G", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.1274G>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Arg425His", "hgvsWellDefined": "NP_001305756.1:p.Arg425His" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "@id": "http://reg.genome.network/allele/PA2827006888", "coordinates": [ { "allele": "A", "end": 1418, "referenceAllele": "G", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.1238G>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Arg413His", "hgvsWellDefined": "NP_001305758.1:p.Arg413His" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "@id": "http://reg.genome.network/allele/PA2827012388", "coordinates": [ { "allele": "A", "end": 1211, "referenceAllele": "G", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.785G>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Arg262His", "hgvsWellDefined": "NP_001305760.1:p.Arg262His" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "@id": "http://reg.genome.network/allele/PA916023493", "coordinates": [ { "allele": "A", "end": 1486, "referenceAllele": "G", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.1418G>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Arg473His", "hgvsWellDefined": "NP_001305761.1:p.Arg473His" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "@id": "http://reg.genome.network/allele/PA2828091086", "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "G", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.1385G>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Arg462His", "hgvsWellDefined": "NP_001350457.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "@id": "http://reg.genome.network/allele/PA2829973239", "coordinates": [ { "allele": "A", "end": 1495, "referenceAllele": "G", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.1385G>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Arg462His", "hgvsWellDefined": "NP_066399.2:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.1385G>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Arg462His", "hgvsWellDefined": "XP_005255588.2:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.1385G>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Arg462His", "hgvsWellDefined": "XP_011520938.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.1385G>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Arg462His", "hgvsWellDefined": "XP_011520939.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "A", "end": 1565, "referenceAllele": "G", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.1547G>A" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Arg516His", "hgvsWellDefined": "XP_011520940.2:p.Arg516His" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.1385G>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Arg462His", "hgvsWellDefined": "XP_011520941.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.1385G>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Arg462His", "hgvsWellDefined": "XP_011520942.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.1385G>A" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Arg462His", "hgvsWellDefined": "XP_016879104.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.1385G>A" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Arg462His", "hgvsWellDefined": "XP_016879105.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "A", "end": 1565, "referenceAllele": "G", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.1547G>A" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Arg516His", "hgvsWellDefined": "XP_016879106.1:p.Arg516His" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "A", "end": 1559, "referenceAllele": "G", "start": 1558 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.41G>A" ], "proteinEffect": { "hgvs": "XP_016879107.1:p.Arg14His", "hgvsWellDefined": "XP_016879107.1:p.Arg14His" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.1385G>A" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Arg462His", "hgvsWellDefined": "XP_024306181.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "@id": "http://reg.genome.network/allele/PA263204", "coordinates": [ { "allele": "A", "end": 1495, "referenceAllele": "G", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.1385G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Arg462His", "hgvsWellDefined": "NP_000539.2:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.1385G>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.1385G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Arg462His" }, "RefSeq": { "hgvs": "NP_000539.2:p.Arg462His" } } } }, { "@id": "http://reg.genome.network/allele/PA2828411199", "coordinates": [ { "allele": "A", "end": 1495, "referenceAllele": "G", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.1385G>A" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Arg462His", "hgvsWellDefined": "NP_001357333.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "@id": "http://reg.genome.network/allele/PA2828417335", "coordinates": [ { "allele": "A", "end": 1495, "referenceAllele": "G", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.1385G>A" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Arg462His", "hgvsWellDefined": "NP_001357334.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "@id": "http://reg.genome.network/allele/PA2825435434", "coordinates": [ { "allele": "A", "end": 1495, "referenceAllele": "G", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.1385G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Arg462His", "hgvsWellDefined": "NP_001070651.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "@id": "http://reg.genome.network/allele/PA2825573331", "coordinates": [ { "allele": "A", "end": 1495, "referenceAllele": "G", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.1385G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Arg462His", "hgvsWellDefined": "NP_001107854.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "@id": "http://reg.genome.network/allele/PA2827001281", "coordinates": [ { "allele": "A", "end": 1384, "referenceAllele": "G", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.1274G>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Arg425His", "hgvsWellDefined": "NP_001305756.1:p.Arg425His" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "@id": "http://reg.genome.network/allele/PA2827006888", "coordinates": [ { "allele": "A", "end": 1328, "referenceAllele": "G", "start": 1327 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.1238G>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Arg413His", "hgvsWellDefined": "NP_001305758.1:p.Arg413His" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "@id": "http://reg.genome.network/allele/PA2827012388", "coordinates": [ { "allele": "A", "end": 1121, "referenceAllele": "G", "start": 1120 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.785G>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Arg262His", "hgvsWellDefined": "NP_001305760.1:p.Arg262His" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "@id": "http://reg.genome.network/allele/PA916023493", "coordinates": [ { "allele": "A", "end": 1486, "referenceAllele": "G", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.1418G>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Arg473His", "hgvsWellDefined": "NP_001305761.1:p.Arg473His" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "@id": "http://reg.genome.network/allele/PA2828091086", "coordinates": [ { "allele": "A", "end": 1495, "referenceAllele": "G", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.1385G>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Arg462His", "hgvsWellDefined": "NP_001350457.1:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "@id": "http://reg.genome.network/allele/PA2829973239", "coordinates": [ { "allele": "A", "end": 1495, "referenceAllele": "G", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.1385G>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Arg462His", "hgvsWellDefined": "NP_066399.2:p.Arg462His" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }