{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA017918", "communityStandardTitle": [ "NM_000548.5(TSC2):c.26C>G (p.Ser9Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76245[alleleid]", "alleleId": 76245, "preferredName": "NM_000548.5(TSC2):c.26C>G (p.Ser9Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65313", "RCV": [ "RCV000055535", "RCV001248431" ], "variationId": 65313 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2098642C>G?assembly=hg19", "id": "chr16:g.2098642C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2048641C>G?assembly=hg38", "id": "chr16:g.2048641C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397515228", "rs": 397515228 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "G", "end": 2048641, "referenceAllele": "C", "start": 2048640 } ], "hgvs": [ "NC_000016.10:g.2048641C>G", "CM000678.2:g.2048641C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "G", "end": 2098642, "referenceAllele": "C", "start": 2098641 } ], "hgvs": [ "NC_000016.9:g.2098642C>G", "CM000678.1:g.2098642C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "G", "end": 2038643, "referenceAllele": "C", "start": 2038642 } ], "hgvs": [ "NC_000016.8:g.2038643C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "G", "end": 4336, "referenceAllele": "C", "start": 4335 } ], "hgvs": [ "NG_005895.1:g.4336C>G", "LRG_487:g.4336C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000437" }, { "coordinates": [ { "allele": "C", "end": 4226, "referenceAllele": "G", "start": 4225 } ], "hgvs": [ "NG_008412.1:g.4226G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001088" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 137, "referenceAllele": "C", "start": 136 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568566.6:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000455997.2:p.Ser9Ter", "hgvsWellDefined": "ENSP00000455997.2:p.Ser9_Ser456delinsGlyLeuLysGluLysPheLysIleLeuLeuGlyLeuGlyThrProArgProAsnProArgSerAlaGluGlyLysGlnThrGluPheIleIleThrAlaGluIleLeuArgGluLeuSerMetGluCysGlyLeuAsnAsnArgIleArgMetIleGlyGlnIleCysGluValAlaLysThrLysLysPheGluGluHisAlaValGluAlaLeuTrpLysAlaValAlaAspLeuLeuGlnProGluArgProLeuGluAlaArgHisAlaValLeuAlaLeuLeuLysAlaIleValGlnGlyGlnGlyGluArgLeuGlyValLeuArgAlaLeuPhePheLysValIleLysAspTyrProSerAsnGluAspLeuHisGluArgLeuGluValPheLysAlaLeuThrAspAsnGlyArgHisIleThrTyrLeuGluGluGluLeuAlaAspPheValLeuGlnTrpMetAspValGlyLeuSerSerGluPheLeuLeuValLeuValAsnLeuValLysPheAsnSerCysTyrLeuAspGluTyrIleAlaArgMetValGlnMetIleCysLeuLeuCysValArgThrAlaSerSerValAspIleGluValSerLeuGlnValLeuAspAlaValValCysTyrAsnCysLeuProAlaGluSerLeuProLeuPheIleValThrLeuCysArgThrIleAsnValLysGluLeuCysGluProCysTrpLysLeuMetArgAsnLeuLeuGlyThrHisLeuGlyHisSerAlaIleTyrAsnMetCysHisLeuMetGluAspArgAlaTyrMetGluAspAlaProLeuLeuArgGlyAlaValPhePheValGlyMetAlaLeuTrpGlyAlaHisArgLeuTyrSerLeuArgAsnSerProThrSerValLeuProSerPheTyrGlnAlaMetAlaCysProAsnGluValValSerTyrGluIleValLeuSerIleThrArgLeuIleLysLysTyrArgLysGluLeuGlnValValAlaTrpAspIleLeuLeuAsnIleIleGluArgLeuLeuGlnGlnLeuGlnThrLeuAspSerProGluLeuArgThrIleValHisAspLeuLeuThrThrValGluGluLeuCysAspGlnAsnGluPheHisGlySerGlnGluArgTyrPheGluLeuValGluArgCysAlaAspGlnArgProGluSerSerLeuLeuAsnLeuIleSerTyrArgAlaGlnSerIleHisProAlaLysAspGlyTrpIleGlnAsnLeuGlnAlaLeuMetGluArgPhePheArgArgSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914316" }, { "coordinates": [ { "allele": "G", "end": 142, "referenceAllele": "C", "start": 141 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642206.2:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000495146.2:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914400" }, { "coordinates": [ { "allele": "G", "end": 97, "referenceAllele": "C", "start": 96 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.2:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000495459.2:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914403" }, { "coordinates": [ { "allele": "G", "end": 135, "referenceAllele": "C", "start": 134 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644417.2:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000493912.2:p.Ser9Ter", "hgvsWellDefined": "ENSP00000493912.2:p.Ser9_Gln181delinsGlyLeuLysGluLysPheLysIleLeuLeuGlyLeuGlyThrProArgProAsnProArgSerAlaGluGlyLysGlnThrGluPheIleIleThrAlaGluIleLeuArgGluLeuSerMetGluCysGlyLeuAsnAsnArgIleArgMetIleGlyGlnIleCysGluValAlaLysThrLysLysPheGluGluHisAlaValGluAlaLeuTrpLysAlaValAlaAspLeuLeuGlnProGluArgProLeuGluAlaArgHisAlaValLeuAlaLeuLeuLysAlaIleValGlnGlyGlnGlyGluArgLeuGlyValLeuArgAlaLeuPhePheLysValIleLysAspTyrProSerAsnGluAspLeuHisGluArgLeuGluValPheLysAlaLeuThrAspAsnGlyArgHisIleThrTyrLeuGluGluGluLeuValAspGlyCysTrpLeuValLeuGlyIleProSerGlyAlaGlyGluLeuGlyGlnIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914414" }, { "coordinates": [ { "allele": "G", "end": 127, "referenceAllele": "C", "start": 126 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646464.2:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000496610.2:p.Ser9Ter", "hgvsWellDefined": "ENSP00000496610.2:p.Ser9_Ala78delinsGlyLeuLysGluLysPheLysIleLeuLeuGlyLeuGlyThrProArgProAsnProArgSerAlaGluGlyLysGlnThrGluPheIleIleThrAlaGluIleLeuArgGluLeuSerMetGluCysGlyLeuAsnAsnArgIleArgMetIleGlyGlnIleCysGluValAlaLysThrLysLysPheGluGluAsnValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914421" }, { "coordinates": [ { "allele": "G", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.9:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS740437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.26C>G" }, "RefSeq": { "hgvs": "NM_000548.5:c.26C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Ser9Ter" }, "RefSeq": { "hgvs": "NP_000539.2:p.Ser9Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 101, "referenceAllele": "C", "start": 100 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.9:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS748446" }, { "coordinates": [ { "allele": "G", "end": 132, "referenceAllele": "C", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.7:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "G", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000461648.3:n.136C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS756717" }, { "coordinates": [ { "allele": "G", "end": 127, "referenceAllele": "C", "start": 126 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.59C>G" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Ser20Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS760554" }, { "coordinates": [ { "allele": "G", "end": 97, "referenceAllele": "C", "start": 96 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642206.1:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000495146.1:p.Ser9Ter", "hgvsWellDefined": "ENSP00000495146.1:p.Ser9_Ala88del" }, "referenceSequence": "http://reg.genome.network/refseq/RS766614" }, { "coordinates": [ { "allele": "G", "end": 78, "referenceAllele": "C", "start": 77 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642561.1:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000495099.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS766811" }, { "coordinates": [ { "allele": "G", "end": 80, "referenceAllele": "C", "start": 79 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642797.1:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000493846.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS766928" }, { "coordinates": [ { "allele": "G", "end": 83, "referenceAllele": "C", "start": 82 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642812.1:n.83C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS766936" }, { "coordinates": [ { "allele": "G", "end": 135, "referenceAllele": "C", "start": 134 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642936.1:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000494514.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS766999" }, { "coordinates": [ { "allele": "G", "end": 144, "referenceAllele": "C", "start": 143 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643088.1:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000494747.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS767083" }, { "coordinates": [ { "allele": "G", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643149.1:n.136C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS767117" }, { "coordinates": [ { "allele": "G", "end": 109, "referenceAllele": "C", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643298.1:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000494393.1:p.Ser9Ter", "hgvsWellDefined": "ENSP00000494393.1:p.Ser9_Gly237delinsGlyLeuLysGluLysPheLysIleLeuLeuGlyLeuGlyThrProArgProAsnProArgSerAlaGluGlyLysGlnThrGluPheIleIleThrAlaGluIleLeuArgGluLeuSerMetGluCysGlyLeuAsnAsnArgIleArgMetIleGlyGlnIleCysGluValAlaLysThrLysLysPheGluGluHisAlaValGluAlaLeuTrpLysAlaValAlaAspLeuLeuGlnProGluArgProLeuGluAlaArgHisAlaValLeuAlaLeuLeuLysAlaIleValGlnGlyGlnGlyGluArgLeuGlyValLeuArgAlaLeuPhePheLysValIleLysAspTyrProSerAsnGluAspLeuHisGluArgLeuGluValPheLysAlaLeuThrAspAsnGlyArgHisIleThrTyrLeuGluGluGluLeuAlaAspPheValLeuGlnTrpMetAspValGlyLeuSerSerGluPheLeuLeuValLeuValAsnLeuValLysPheAsnSerCysTyrLeuAspGluTyrIleAlaArgMetValGlnMetLeuHisGluLeuCysLeuThrHisAlaGluHisProAlaProArgAlaValAlaGlyAlaGlnGlnAlaProGluCysLeuLeuGlyGlyTrpAspProGlnGlyGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767200" }, { "coordinates": [ { "allele": "G", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643745.1:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000495948.1:p.Ser9Ter", "hgvsWellDefined": "ENSP00000495948.1:p.Ser9_Val384delinsGlyLeuLysGluLysPheLysIleLeuLeuGlyLeuGlyThrProArgProAsnProArgSerAlaGluGlyLysGlnThrGluPheIleIleThrAlaGluIleLeuArgGluLeuSerMetGluCysGlyLeuAsnAsnArgIleArgMetIleGlyGlnIleCysGluValAlaLysThrLysLysPheGluGluHisAlaValGluAlaLeuTrpLysAlaValAlaAspLeuLeuGlnProGluArgProLeuGluAlaArgHisAlaValLeuAlaLeuLeuLysAlaIleValGlnGlyGlnGlyGluArgLeuGlyValLeuArgAlaLeuPhePheLysValIleLysAspTyrProSerAsnGluAspLeuHisGluArgLeuGluValPheLysAlaLeuThrAspAsnGlyArgHisIleThrTyrLeuGluGluGluLeuAlaAspPheValLeuGlnTrpMetAspValGlyLeuSerSerGluPheLeuLeuValLeuValAsnLeuValLysPheAsnSerCysTyrLeuAspGluTyrIleAlaArgMetValGlnMetIleCysLeuLeuCysValArgThrAlaSerSerValAspIleGluValSerLeuGlnValLeuAspAlaValValCysTyrAsnCysLeuProAlaGluSerLeuProLeuPheIleValThrLeuCysArgThrIleAsnValLysGluLeuCysGluProCysTrpLysLeuMetArgAsnLeuLeuGlyThrHisLeuGlyHisSerAlaIleTyrAsnMetCysHisLeuMetGluAspArgAlaTyrMetGluAspAlaProLeuLeuArgGlyAlaValPhePheValGlyMetAlaLeuTrpGlyAlaHisArgLeuTyrSerLeuArgAsnSerProThrSerValLeuProSerPheTyrGlnAlaMetAlaCysProAsnGluValValSerTyrGluIleValLeuSerIleThrArgLeuIleLysLysTyrArgLysGluLeuGlnValValAlaTrpAspIleLeuLeuAsnIleIleGluArgLeuLeuGlnGlnLeuGlnTrpArgSerSerThrPheHisArgArgGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767447" }, { "coordinates": [ { "allele": "G", "end": 144, "referenceAllele": "C", "start": 143 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643946.1:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000495927.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS767559" }, { "coordinates": [ { "allele": "G", "end": 80, "referenceAllele": "C", "start": 79 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644043.1:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000496262.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS767603" }, { "coordinates": [ { "allele": "G", "end": 138, "referenceAllele": "C", "start": 137 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644135.1:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000495644.1:p.Ser9Ter", "hgvsWellDefined": "ENSP00000495644.1:p.Ser9_Gln572delinsGlyLeuLysGluLysPheLysIleLeuLeuGlyLeuGlyThrProArgProAsnProArgSerAlaGluGlyLysGlnThrGluPheIleIleThrAlaGluIleLeuArgGluLeuSerMetGluCysGlyLeuAsnAsnArgIleArgMetIleGlyGlnIleCysGluValAlaLysThrLysLysPheGluGluHisAlaValGluAlaLeuTrpLysAlaValAlaAspLeuLeuGlnProGluArgProLeuGluAlaArgHisAlaValLeuAlaLeuLeuLysAlaIleValGlnGlyGlnGlyGluArgLeuGlyValLeuArgAlaLeuPhePheLysValIleLysAspTyrProSerAsnGluAspLeuHisGluArgLeuGluValPheLysAlaLeuThrAspAsnGlyArgHisIleThrTyrLeuGluGluGluLeuAlaAspPheValLeuGlnTrpMetAspValGlyLeuSerSerGluPheLeuLeuValLeuValAsnLeuValLysPheAsnSerCysTyrLeuAspGluTyrIleAlaArgMetValGlnMetIleCysLeuLeuCysValArgThrAlaSerSerValAspIleGluValSerLeuGlnValLeuAspAlaValValCysTyrAsnCysLeuProAlaGluSerLeuProLeuPheIleValThrLeuCysArgThrIleAsnValLysGluLeuCysGluProCysTrpLysLeuMetArgAsnLeuLeuGlyThrHisLeuGlyHisSerAlaIleTyrAsnMetCysHisLeuMetGluAspArgAlaTyrMetGluAspAlaProLeuLeuArgGlyAlaValPhePheValGlyMetAlaLeuTrpGlyAlaHisArgLeuTyrSerLeuArgAsnSerProThrSerValLeuProSerPheTyrGlnAlaMetAlaCysProAsnGluValValSerTyrGluIleValLeuSerIleThrArgLeuIleLysLysTyrArgLysGluLeuGlnValValAlaTrpAspIleLeuLeuAsnIleIleGluArgLeuLeuGlnGlnLeuGlnThrLeuAspSerProGluLeuArgThrIleValHisAspLeuLeuThrThrValGluGluLeuCysAspGlnAsnGluPheHisGlySerGlnGluArgTyrPheGluLeuValGluArgCysAlaAspGlnArgProGluSerSerLeuLeuAsnLeuIleSerTyrArgAlaGlnSerIleHisProAlaLysAspGlyTrpIleGlnAsnLeuGlnAlaLeuMetGluArgPhePheArgSerGluSerArgGlyAlaValArgIleLysValLeuAspValLeuSerPheValLeuLeuIleAsnArgGlnPheTyrGluGluGluLeuIleAsnSerValValIleSerGlnLeuSerHisIleProGluAspLysAspHisGlnValArgLysLeuAlaThrGlnLeuLeuValAspLeuAlaGluGlyCysHisThrHisHisPheAsnSerLeuLeuAspIleIleGluLysValMetAlaArgSerLeuSerProProProGluLeuGluGluArgAspValAlaAlaTyrSerAlaSerLeuGluAspValLysThrAlaValLeuGlyLeuLeuValIleLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767651" }, { "coordinates": [ { "allele": "G", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644222.1:n.113C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS767707" }, { "coordinates": [ { "allele": "G", "end": 88, "referenceAllele": "C", "start": 87 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644329.1:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000496611.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS767764" }, { "coordinates": [ { "allele": "G", "end": 126, "referenceAllele": "C", "start": 125 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644335.1:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000496317.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS767767" }, { "coordinates": [ { "allele": "G", "end": 19, "referenceAllele": "C", "start": 18 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644399.1:c.19C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS767800" }, { "coordinates": [ { "allele": "G", "end": 143, "referenceAllele": "C", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644665.1:n.143C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS767927" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "C", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645591.1:n.154C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768448" }, { "coordinates": [ { "allele": "G", "end": 112, "referenceAllele": "C", "start": 111 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646388.1:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000495921.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS768845" }, { "coordinates": [ { "allele": "G", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.7:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247369" }, { "coordinates": [ { "allele": "G", "end": 101, "referenceAllele": "C", "start": 100 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.8:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS246737" }, { "coordinates": [ { "allele": "G", "end": 86, "endIntronDirection": "+", "endIntronOffset": 576, "referenceAllele": "C", "start": 86, "startIntronDirection": "+", "startIntronOffset": 575 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000382538.10:c.-10+576C>G" ], "proteinEffect": { "hgvs": "ENSP00000371978.6:n.-10+576C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247352" }, { "coordinates": [ { "allele": "G", "end": 132, "referenceAllele": "C", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.6:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "G", "end": 88, "referenceAllele": "C", "start": 87 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:p.Ser9Ter", "hgvsWellDefined": "ENSP00000406980.2:p.Ser9_Gly108delinsGlyLeuLysGluLysPheLysIleLeuLeuGlyLeuGlyThrProArgProAsnProArgSerAlaGluGlyLysGlnThrGluPheIleIleThrAlaGluIleLeuArgGluLeuSerMetGluCysGlyLeuAsnAsnArgIleArgMetIleGlyGlnIleCysGluValAlaLysThrLysLysPheGluGluAspAspLeuSerAlaValArgProAspArgValLeuCysGlyHisArgGlyLeuProAlaGlyAlaGlyArgArgGlyLeuLeuGlnLeuProAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "G", "end": 107, "referenceAllele": "C", "start": 106 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.26C>G" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "G", "end": 131, "referenceAllele": "C", "start": 130 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000461648.2:n.131C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS306105" }, { "coordinates": [ { "allele": "G", "end": 127, "referenceAllele": "C", "start": 126 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.59C>G" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Ser20Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "coordinates": [ { "allele": "G", "end": 132, "referenceAllele": "C", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.26C>G", "LRG_487t1:c.26C>G" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "coordinates": [ { "allele": "G", "end": 132, "referenceAllele": "C", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.26C>G" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS009932" }, { "coordinates": [ { "allele": "G", "end": 132, "referenceAllele": "C", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.1:c.26C>G" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS011321" }, { "coordinates": [ { "allele": "G", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255529.3:c.26C>G" ], "proteinEffect": { "hgvs": "XP_005255586.2:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "G", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.26C>G" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "G", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.26C>G" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "G", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.26C>G" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "G", "end": 185, "referenceAllele": "C", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.26C>G" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "G", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.26C>G" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "G", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.26C>G" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "G", "end": 185, "referenceAllele": "C", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.26C>G" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "coordinates": [ { "allele": "G", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.26C>G" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "coordinates": [ { "allele": "G", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.26C>G" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "coordinates": [ { "allele": "G", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.26C>G" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "coordinates": [ { "allele": "G", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.26C>G" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "coordinates": [ { "allele": "G", "end": 171, "endIntronDirection": "+", "endIntronOffset": 576, "referenceAllele": "C", "start": 171, "startIntronDirection": "+", "startIntronOffset": 575 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.-10+576C>G" ], "proteinEffect": { "hgvs": "NP_001305758.1:n.-10+576C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "coordinates": [ { "allele": "G", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.-201C>G" ], "proteinEffect": { "hgvs": "NP_001305760.1:n.-201C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "coordinates": [ { "allele": "G", "end": 127, "referenceAllele": "C", "start": 126 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.59C>G" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Ser20Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "coordinates": [ { "allele": "G", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.26C>G" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "coordinates": [ { "allele": "G", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.26C>G" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "G", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.26C>G" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "G", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.26C>G" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "G", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.26C>G" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "G", "end": 317, "referenceAllele": "C", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.299C>G" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Ser100Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "G", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.26C>G" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "G", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.26C>G" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "G", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.26C>G" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "G", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.26C>G" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "G", "end": 317, "referenceAllele": "C", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.299C>G" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Ser100Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "G", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.-1406C>G" ], "proteinEffect": { "hgvs": "XP_016879107.1:n.-1406C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "G", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.26C>G" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "coordinates": [ { "allele": "G", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.26C>G" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.26C>G" }, "RefSeq": { "hgvs": "NM_000548.5:c.26C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Ser9Ter" }, "RefSeq": { "hgvs": "NP_000539.2:p.Ser9Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.26C>G" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "coordinates": [ { "allele": "G", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.26C>G" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "coordinates": [ { "allele": "G", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.26C>G" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "coordinates": [ { "allele": "G", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.26C>G" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "coordinates": [ { "allele": "G", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.26C>G" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "coordinates": [ { "allele": "G", "end": 81, "endIntronDirection": "+", "endIntronOffset": 576, "referenceAllele": "C", "start": 81, "startIntronDirection": "+", "startIntronOffset": 575 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.-10+576C>G" ], "proteinEffect": { "hgvs": "NP_001305758.1:n.-10+576C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "coordinates": [ { "allele": "G", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.-201C>G" ], "proteinEffect": { "hgvs": "NP_001305760.1:n.-201C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "coordinates": [ { "allele": "G", "end": 127, "referenceAllele": "C", "start": 126 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.59C>G" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Ser20Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "coordinates": [ { "allele": "G", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.26C>G" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "coordinates": [ { "allele": "G", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.26C>G" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Ser9Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }