{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA016199", "communityStandardTitle": [ "NM_000548.5(TSC2):c.1912G>A (p.Val638Met)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139112[alleleid]", "alleleId": 139112, "preferredName": "NM_000548.5(TSC2):c.1912G>A (p.Val638Met)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135373", "RCV": [ "RCV000122210", "RCV001013672", "RCV000807299", "RCV003997362", "RCV004542921" ], "variationId": 135373 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2121583G>A?assembly=hg19", "id": "chr16:g.2121583G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2071582G>A?assembly=hg38", "id": "chr16:g.2071582G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587778730", "rs": 587778730 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2121583-G-A?dataset=gnomad_r2_1", "id": "16-2121583-G-A", "variant": "16:2121583 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2071582-G-A?dataset=gnomad_r4", "id": "16-2071582-G-A", "variant": "16:2071582 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2071582, "referenceAllele": "G", "start": 2071581 } ], "hgvs": [ "NC_000016.10:g.2071582G>A", "CM000678.2:g.2071582G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2121583, "referenceAllele": "G", "start": 2121582 } ], "hgvs": [ "NC_000016.9:g.2121583G>A", "CM000678.1:g.2121583G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2061584, "referenceAllele": "G", "start": 2061583 } ], "hgvs": [ "NC_000016.8:g.2061584G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 27277, "referenceAllele": "G", "start": 27276 } ], "hgvs": [ "NG_005895.1:g.27277G>A", "LRG_487:g.27277G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000437" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1941, "referenceAllele": "G", "start": 1940 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568566.6:c.*459G>A" ], "proteinEffect": { "hgvs": "ENSP00000455997.2:n.*459G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914316" }, { "coordinates": [ { "allele": "A", "end": 2073, "referenceAllele": "G", "start": 2072 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642206.2:c.1957G>A" ], "proteinEffect": { "hgvs": "ENSP00000495146.2:p.Val653Met", "hgvsWellDefined": "ENSP00000495146.2:p.Val653Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914400" }, { "coordinates": [ { "allele": "A", "end": 1983, "referenceAllele": "G", "start": 1982 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.2:c.1912G>A" ], "proteinEffect": { "hgvs": "ENSP00000495459.2:p.Val638Met", "hgvsWellDefined": "ENSP00000495459.2:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914403" }, { "coordinates": [ { "allele": "A", "end": 2004, "referenceAllele": "G", "start": 2003 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644417.2:c.*1349G>A" ], "proteinEffect": { "hgvs": "ENSP00000493912.2:n.*1349G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914414" }, { "coordinates": [ { "allele": "A", "end": 1855, "referenceAllele": "G", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646464.2:c.*1517G>A" ], "proteinEffect": { "hgvs": "ENSP00000496610.2:n.*1517G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914421" }, { "coordinates": [ { "allele": "A", "end": 2022, "referenceAllele": "G", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.9:c.1912G>A" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Val638Met", "hgvsWellDefined": "ENSP00000219476.3:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS740437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.1912G>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.1912G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Val638Met" }, "RefSeq": { "hgvs": "NP_000539.2:p.Val638Met" } } } }, { "coordinates": [ { "allele": "A", "end": 1987, "referenceAllele": "G", "start": 1986 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.9:c.1912G>A" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Val638Met", "hgvsWellDefined": "ENSP00000344383.4:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS748446" }, { "coordinates": [ { "allele": "A", "end": 2018, "referenceAllele": "G", "start": 2017 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.7:c.1912G>A" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Val638Met", "hgvsWellDefined": "ENSP00000384468.2:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "A", "end": 2013, "referenceAllele": "G", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.1945G>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Val649Met", "hgvsWellDefined": "ENSP00000454487.1:p.Val649Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS760554" }, { "coordinates": [ { "allele": "A", "end": 569, "referenceAllele": "G", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.1:c.569G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766702" }, { "coordinates": [ { "allele": "A", "end": 1964, "referenceAllele": "G", "start": 1963 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642561.1:c.1912G>A" ], "proteinEffect": { "hgvs": "ENSP00000495099.1:p.Val638Met", "hgvsWellDefined": "ENSP00000495099.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS766811" }, { "coordinates": [ { "allele": "A", "end": 1966, "referenceAllele": "G", "start": 1965 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642797.1:c.1912G>A" ], "proteinEffect": { "hgvs": "ENSP00000493846.1:p.Val638Met", "hgvsWellDefined": "ENSP00000493846.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS766928" }, { "coordinates": [ { "allele": "A", "end": 2021, "referenceAllele": "G", "start": 2020 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642936.1:c.1912G>A" ], "proteinEffect": { "hgvs": "ENSP00000494514.1:p.Val638Met", "hgvsWellDefined": "ENSP00000494514.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS766999" }, { "coordinates": [ { "allele": "A", "end": 2030, "referenceAllele": "G", "start": 2029 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643088.1:c.1912G>A" ], "proteinEffect": { "hgvs": "ENSP00000494747.1:p.Val638Met", "hgvsWellDefined": "ENSP00000494747.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS767083" }, { "coordinates": [ { "allele": "A", "end": 2211, "referenceAllele": "G", "start": 2210 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643298.1:c.*1414G>A" ], "proteinEffect": { "hgvs": "ENSP00000494393.1:n.*1414G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767200" }, { "coordinates": [ { "allele": "A", "end": 2030, "referenceAllele": "G", "start": 2029 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643946.1:c.1912G>A" ], "proteinEffect": { "hgvs": "ENSP00000495927.1:p.Val638Met", "hgvsWellDefined": "ENSP00000495927.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS767559" }, { "coordinates": [ { "allele": "A", "end": 1966, "referenceAllele": "G", "start": 1965 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644043.1:c.1912G>A" ], "proteinEffect": { "hgvs": "ENSP00000496262.1:p.Val638Met", "hgvsWellDefined": "ENSP00000496262.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS767603" }, { "coordinates": [ { "allele": "A", "end": 2243, "referenceAllele": "G", "start": 2242 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644135.1:c.*412G>A" ], "proteinEffect": { "hgvs": "ENSP00000495644.1:n.*412G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767651" }, { "coordinates": [ { "allele": "A", "end": 1974, "referenceAllele": "G", "start": 1973 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644329.1:c.1912G>A" ], "proteinEffect": { "hgvs": "ENSP00000496611.1:p.Val638Met", "hgvsWellDefined": "ENSP00000496611.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS767764" }, { "coordinates": [ { "allele": "A", "end": 2012, "referenceAllele": "G", "start": 2011 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644335.1:c.1912G>A" ], "proteinEffect": { "hgvs": "ENSP00000496317.1:p.Val638Met", "hgvsWellDefined": "ENSP00000496317.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS767767" }, { "coordinates": [ { "allele": "A", "end": 1905, "referenceAllele": "G", "start": 1904 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644399.1:c.1905G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767800" }, { "coordinates": [ { "allele": "A", "end": 904, "referenceAllele": "G", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644847.1:n.904G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768031" }, { "coordinates": [ { "allele": "A", "end": 194, "referenceAllele": "G", "start": 193 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645024.1:n.194G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768127" }, { "coordinates": [ { "allele": "A", "end": 192, "referenceAllele": "G", "start": 191 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645552.1:n.192G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768423" }, { "coordinates": [ { "allele": "A", "end": 1998, "referenceAllele": "G", "start": 1997 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646388.1:c.1912G>A" ], "proteinEffect": { "hgvs": "ENSP00000495921.1:p.Val638Met", "hgvsWellDefined": "ENSP00000495921.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS768845" }, { "coordinates": [ { "allele": "A", "end": 925, "referenceAllele": "G", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646634.1:n.925G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768983" }, { "coordinates": [ { "allele": "A", "end": 2542, "referenceAllele": "G", "start": 2541 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.7:c.1912G>A" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Val638Met", "hgvsWellDefined": "ENSP00000219476.3:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247369" }, { "coordinates": [ { "allele": "A", "end": 1987, "referenceAllele": "G", "start": 1986 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.8:c.1912G>A" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Val638Met", "hgvsWellDefined": "ENSP00000344383.4:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS246737" }, { "coordinates": [ { "allele": "A", "end": 1860, "referenceAllele": "G", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000382538.10:c.1765G>A" ], "proteinEffect": { "hgvs": "ENSP00000371978.6:p.Val589Met", "hgvsWellDefined": "ENSP00000371978.6:p.Val589Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247352" }, { "coordinates": [ { "allele": "A", "end": 2018, "referenceAllele": "G", "start": 2017 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.6:c.1912G>A" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Val638Met", "hgvsWellDefined": "ENSP00000384468.2:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "A", "end": 1600, "referenceAllele": "G", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.*1211G>A" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:n.*1211G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "A", "end": 1882, "referenceAllele": "G", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.1801G>A" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Val601Met", "hgvsWellDefined": "ENSP00000399232.2:p.Val601Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "A", "end": 419, "referenceAllele": "G", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000488675.5:n.419G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326915" }, { "coordinates": [ { "allele": "A", "end": 2013, "referenceAllele": "G", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.1945G>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Val649Met", "hgvsWellDefined": "ENSP00000454487.1:p.Val649Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "@id": "http://reg.genome.network/allele/PA162598", "coordinates": [ { "allele": "A", "end": 2018, "referenceAllele": "G", "start": 2017 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.1912G>A", "LRG_487t1:c.1912G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Val638Met", "hgvsWellDefined": "NP_000539.2:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "@id": "http://reg.genome.network/allele/PA2825440306", "coordinates": [ { "allele": "A", "end": 2018, "referenceAllele": "G", "start": 2017 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.1912G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Val638Met", "hgvsWellDefined": "NP_001070651.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS009932" }, { "@id": "http://reg.genome.network/allele/PA2825573943", "coordinates": [ { "allele": "A", "end": 2018, "referenceAllele": "G", "start": 2017 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.1:c.1912G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Val638Met", "hgvsWellDefined": "NP_001107854.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS011321" }, { "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255529.3:c.1912G>A" ], "proteinEffect": { "hgvs": "XP_005255586.2:p.Val638Met", "hgvsWellDefined": "XP_005255586.2:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.1912G>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Val638Met", "hgvsWellDefined": "XP_005255588.2:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.1912G>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Val638Met", "hgvsWellDefined": "XP_011520938.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.1912G>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Val638Met", "hgvsWellDefined": "XP_011520939.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "A", "end": 1960, "referenceAllele": "G", "start": 1959 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.1801G>A" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Val601Met", "hgvsWellDefined": "XP_011520940.1:p.Val601Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.1912G>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Val638Met", "hgvsWellDefined": "XP_011520941.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.1912G>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Val638Met", "hgvsWellDefined": "XP_011520942.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "A", "end": 1960, "referenceAllele": "G", "start": 1959 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.1801G>A" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Val601Met", "hgvsWellDefined": "XP_011520943.1:p.Val601Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "@id": "http://reg.genome.network/allele/PA162598", "coordinates": [ { "allele": "A", "end": 2112, "referenceAllele": "G", "start": 2111 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.1912G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Val638Met", "hgvsWellDefined": "NP_000539.2:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "@id": "http://reg.genome.network/allele/PA2825440306", "coordinates": [ { "allele": "A", "end": 2112, "referenceAllele": "G", "start": 2111 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.1912G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Val638Met", "hgvsWellDefined": "NP_001070651.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "@id": "http://reg.genome.network/allele/PA2825573943", "coordinates": [ { "allele": "A", "end": 2112, "referenceAllele": "G", "start": 2111 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.1912G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Val638Met", "hgvsWellDefined": "NP_001107854.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "@id": "http://reg.genome.network/allele/PA2827001898", "coordinates": [ { "allele": "A", "end": 2001, "referenceAllele": "G", "start": 2000 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.1801G>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Val601Met", "hgvsWellDefined": "NP_001305756.1:p.Val601Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "@id": "http://reg.genome.network/allele/PA2827011276", "coordinates": [ { "allele": "A", "end": 1945, "referenceAllele": "G", "start": 1944 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.1765G>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Val589Met", "hgvsWellDefined": "NP_001305758.1:p.Val589Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "@id": "http://reg.genome.network/allele/PA2827013002", "coordinates": [ { "allele": "A", "end": 1738, "referenceAllele": "G", "start": 1737 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.1312G>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Val438Met", "hgvsWellDefined": "NP_001305760.1:p.Val438Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "@id": "http://reg.genome.network/allele/PA916023695", "coordinates": [ { "allele": "A", "end": 2013, "referenceAllele": "G", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.1945G>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Val649Met", "hgvsWellDefined": "NP_001305761.1:p.Val649Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "@id": "http://reg.genome.network/allele/PA2828091702", "coordinates": [ { "allele": "A", "end": 2112, "referenceAllele": "G", "start": 2111 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.1912G>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Val638Met", "hgvsWellDefined": "NP_001350457.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "@id": "http://reg.genome.network/allele/PA2829974691", "coordinates": [ { "allele": "A", "end": 2022, "referenceAllele": "G", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.1912G>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Val638Met", "hgvsWellDefined": "NP_066399.2:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.1912G>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Val638Met", "hgvsWellDefined": "XP_005255588.2:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.1912G>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Val638Met", "hgvsWellDefined": "XP_011520938.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.1912G>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Val638Met", "hgvsWellDefined": "XP_011520939.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "A", "end": 2092, "referenceAllele": "G", "start": 2091 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.2074G>A" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Val692Met", "hgvsWellDefined": "XP_011520940.2:p.Val692Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.1912G>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Val638Met", "hgvsWellDefined": "XP_011520941.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.1912G>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Val638Met", "hgvsWellDefined": "XP_011520942.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.1912G>A" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Val638Met", "hgvsWellDefined": "XP_016879104.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.1912G>A" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Val638Met", "hgvsWellDefined": "XP_016879105.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "A", "end": 2092, "referenceAllele": "G", "start": 2091 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.2074G>A" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Val692Met", "hgvsWellDefined": "XP_016879106.1:p.Val692Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "A", "end": 2086, "referenceAllele": "G", "start": 2085 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.568G>A" ], "proteinEffect": { "hgvs": "XP_016879107.1:p.Val190Met", "hgvsWellDefined": "XP_016879107.1:p.Val190Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.1912G>A" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Val638Met", "hgvsWellDefined": "XP_024306181.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "@id": "http://reg.genome.network/allele/PA162598", "coordinates": [ { "allele": "A", "end": 2022, "referenceAllele": "G", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.1912G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Val638Met", "hgvsWellDefined": "NP_000539.2:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.1912G>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.1912G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Val638Met" }, "RefSeq": { "hgvs": "NP_000539.2:p.Val638Met" } } } }, { "@id": "http://reg.genome.network/allele/PA2828411818", "coordinates": [ { "allele": "A", "end": 2022, "referenceAllele": "G", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.1912G>A" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Val638Met", "hgvsWellDefined": "NP_001357333.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "@id": "http://reg.genome.network/allele/PA2828417952", "coordinates": [ { "allele": "A", "end": 2022, "referenceAllele": "G", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.1912G>A" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Val638Met", "hgvsWellDefined": "NP_001357334.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "@id": "http://reg.genome.network/allele/PA2825440306", "coordinates": [ { "allele": "A", "end": 2022, "referenceAllele": "G", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.1912G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Val638Met", "hgvsWellDefined": "NP_001070651.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "@id": "http://reg.genome.network/allele/PA2825573943", "coordinates": [ { "allele": "A", "end": 2022, "referenceAllele": "G", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.1912G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Val638Met", "hgvsWellDefined": "NP_001107854.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "@id": "http://reg.genome.network/allele/PA2827001898", "coordinates": [ { "allele": "A", "end": 1911, "referenceAllele": "G", "start": 1910 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.1801G>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Val601Met", "hgvsWellDefined": "NP_001305756.1:p.Val601Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "@id": "http://reg.genome.network/allele/PA2827011276", "coordinates": [ { "allele": "A", "end": 1855, "referenceAllele": "G", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.1765G>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Val589Met", "hgvsWellDefined": "NP_001305758.1:p.Val589Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "@id": "http://reg.genome.network/allele/PA2827013002", "coordinates": [ { "allele": "A", "end": 1648, "referenceAllele": "G", "start": 1647 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.1312G>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Val438Met", "hgvsWellDefined": "NP_001305760.1:p.Val438Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "@id": "http://reg.genome.network/allele/PA916023695", "coordinates": [ { "allele": "A", "end": 2013, "referenceAllele": "G", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.1945G>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Val649Met", "hgvsWellDefined": "NP_001305761.1:p.Val649Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "@id": "http://reg.genome.network/allele/PA2828091702", "coordinates": [ { "allele": "A", "end": 2022, "referenceAllele": "G", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.1912G>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Val638Met", "hgvsWellDefined": "NP_001350457.1:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "@id": "http://reg.genome.network/allele/PA2829974691", "coordinates": [ { "allele": "A", "end": 2022, "referenceAllele": "G", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.1912G>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Val638Met", "hgvsWellDefined": "NP_066399.2:p.Val638Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }