{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA342391", "communityStandardTitle": [ "NM_024577.4(SH3TC2):c.920G>A (p.Trp307Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34553[alleleid]", "alleleId": 34553, "preferredName": "NM_024577.4(SH3TC2):c.920G>A (p.Trp307Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21701", "RCV": [ "RCV000789562", "RCV001851980" ], "variationId": 21701 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.148417939C>T?assembly=hg19", "id": "chr5:g.148417939C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.149038376C>T?assembly=hg38", "id": "chr5:g.149038376C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/80338921", "rs": 80338921 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 149038376, 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"http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000676056.1:c.*178G>A" ], "proteinEffect": { "hgvs": "ENSP00000501827.1:n.*178G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775794" }, { "coordinates": [ { "allele": "A", "end": 884, "referenceAllele": "G", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000323829.9:c.*178G>A" ], "proteinEffect": { "hgvs": "ENSP00000313025.5:n.*178G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS258259" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000503071.1:n.387G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS335479" }, { "coordinates": [ { "allele": "A", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000504517.5:c.320G>A" ], "proteinEffect": { "hgvs": "ENSP00000421779.1:p.Trp107Ter", "hgvsWellDefined": "ENSP00000421779.1:p.Trp107_Ile141delinsPheIleGlyLysSerThrSerSerGlyGlnValGlyPheValProThrArgAsnIleAspProAspSerTyrSerProMetThrTrpCysValSerSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS336558" }, { "coordinates": [ { "allele": "A", "end": 1061, "referenceAllele": "G", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000504690.5:c.920G>A" ], "proteinEffect": { "hgvs": "ENSP00000425627.1:p.Trp307Ter", "hgvsWellDefined": "ENSP00000425627.1:p.Trp307_Glu1259delinsPheIleGlyLysSerThrSerSerGlyGlnValGlyPheValProThrArgAsnIleAspProAspSerTyrSerProMetSerArgAsnSerAlaPheLeuSerAspGluGluArgCysSerLeuLeuAlaLeuGlySerAspLysGlnThrGluCysSerSerPheLeuHisThrLeuAlaArgThrAspIleThrSerValTyrArgLeuSerGlyPheGluSerIleGlnAsnProProAsnAspLeuSerAlaSerGlnProGluGlyPheLysGluValArgProGlyArgAlaTrpGluGluHisGlnAlaValGlySerArgGlnSerSerSerSerGluAspSerSerLeuGluGluGluLeuLeuSerAlaThrSerAspSerTyrArgLeuProGluProAspAspLeuAspAspProGluLeuLeuMetAspLeuSerThrGlyGlnGluGluGluAlaGluAsnPheAlaProIleLeuAlaPheLeuAspHisGluGlyTyrAlaAspHisPheLysSerLeuTyrAspPheSerPheSerPheLeuThrSerSerPheTyrSerPheSerGluGluAspGluPheValAlaTyrLeuGluAlaSerArgLysTrpAlaLysLysSerHisMetThrTrpAlaHisAlaArgLeuCysPheLeuLeuGlyArgLeuSerIleArgLysValLysLeuSerGlnAlaArgValTyrPheGluGluAlaIleHisIleLeuAsnGlyAlaPheGluAspLeuSerLeuValAlaThrLeuTyrIleAsnLeuAlaAlaIleTyrLeuLysGlnArgLeuArgHisLysGlySerAlaLeuLeuGluLysAlaGlyAlaLeuLeuAlaCysLeuProAspArgGluSerSerAlaLysHisGluLeuAspValValAlaTyrValLeuArgGlnGlyIleValValGlySerSerProLeuGluAlaArgAlaCysPheLeuAlaIleArgLeuLeuLeuSerLeuGlyArgHisGluGluValLeuProPheAlaGluArgLeuGlnLeuLeuSerGlyHisProProAlaSerGluAlaValAlaSerValLeuSerPheLeuTyrAspLysLysTyrLeuProHisLeuAlaValAlaSerValGlnGlnHisGlyIleGlnSerAlaGlnGlyMetSerLeuProIleTrpGlnValHisLeuValLeuGlnAsnThrThrLysLeuLeuGlyPheProSerProGlyTrpGlyGluValSerAlaLeuAlaCysProMetLeuArgGlnAlaLeuAlaAlaCysGluGluLeuAlaAspArgSerThrGlnArgAlaLeuCysLeuIleLeuSerLysValTyrLeuGluHisArgSerProAspGlyAlaIleHisTyrLeuSerGlnAlaLeuValLeuGlyGlnLeuLeuGlyGluGlnGluSerPheGluSerSerLeuCysLeuAlaTrpAlaTyrLeuLeuAlaSerGlnAlaLysLysAlaLeuAspValLeuGluProLeuLeuCysSerLeuLysGluThrGluSerLeuThrGlnArgGlyValIleTyrAsnLeuLeuGlyLeuAlaLeuGlnGlyGluGlyArgValAsnArgAlaAlaLysSerTyrLeuArgAlaLeuAsnArgAlaGlnGluValGlyAspValHisAsnGlnAlaValAlaMetAlaAsnLeuGlyHisLeuSerLeuLysSerTrpAlaGlnHisProAlaArgAsnTyrLeuLeuGlnAlaValArgLeuTyrCysGluLeuGlnAlaSerLysGluThrAspMetGluLeuValGlnValPheLeuTrpLeuAlaGlnValLeuValSerGlyHisGlnLeuThrHisGlyLeuLeuCysTyrGluMetAlaLeuLeuPheGlyLeuArgHisArgHisLeuLysSerGlnLeuGlnAlaThrLysSerLeuCysHisPheTyrSerSerValSerProAsnProGluAlaCysIleThrTyrHisGluHisTrpLeuAlaLeuAlaGlnGlnLeuArgAspArgGluMetGluGlyArgLeuLeuGluSerLeuGlyGlnLeuTyrArgAsnLeuAsnThrAlaArgSerLeuArgArgSerLeuThrCysIleLysGluSerLeuArgIlePheIleAspLeuGlyGluThrAspLysAlaAlaGluAlaTrpLeuGlyAlaGlyArgLeuHisTyrLeuMetGlnGluAspGluLeuValGluLeuCysLeuGlnAlaAlaIleGlnThrAlaLeuLysSerGluGluProLeuLeuAlaLeuLysLeuTyrGluGluAlaGlyAspValPhePheAsnGlyThrArgHisArgHisHisAlaValGluTyrTyrArgAlaGlyAlaValProLeuAlaArgArgLeuLysAlaValArgThrGluLeuArgIlePheAsnLysLeuThrGluLeuGlnIleSerLeuGluGlyTyrGluLysAlaLeuGluPheAlaThrLeuAlaAlaArgLeuSerThrValThrGlyAspGlnArgGlnGluLeuValAlaPheHisArgLeuAlaThrValTyrTyrSerLeuHisMetTyrGluMetAlaGluAspCysTyrLeuLysThrLeuSerLeuCysProProTrpLeuGlnSerProLysGluAlaLeuTyrTyrAlaLysValTyrTyrArgLeuGlyArgLeuThrPheCysGlnLeuLysPheLeuLeuCysCysProGlyTrpSerSerValValGlnSerGlyLeuProAlaThrSerAspSerGlyAlaGlnValIleLeuGlnCysGlnProProGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS336681" }, { "coordinates": [ { "allele": "A", "end": 1028, "referenceAllele": "G", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000511307.5:c.*700G>A" ], "proteinEffect": { "hgvs": "ENSP00000421420.1:n.*700G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS341603" }, { "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "G", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000512049.5:c.899G>A" ], "proteinEffect": { "hgvs": "ENSP00000421860.1:p.Trp300Ter", "hgvsWellDefined": "ENSP00000421860.1:p.Trp300_Leu1281delinsPheIleGlyLysSerThrSerSerGlyGlnValGlyPheValProThrArgAsnIleAspProAspSerTyrSerProMetSerArgAsnSerAlaPheLeuSerAspGluGluArgCysSerLeuLeuAlaLeuGlySerAspLysGlnThrGluCysSerSerPheLeuHisThrLeuAlaArgThrAspIleThrSerValTyrArgLeuSerGlyPheGluSerIleGlnAsnProProAsnAspLeuSerAlaSerGlnProGluGlyPheLysGluValArgProGlyArgAlaTrpGluGluHisGlnAlaValGlySerArgGlnSerSerSerSerGluAspSerSerLeuGluGluGluLeuLeuSerAlaThrSerAspSerTyrArgLeuProGluProAspAspLeuAspAspProGluLeuLeuMetAspLeuSerThrGlyGlnGluGluGluAlaGluAsnPheAlaProIleLeuAlaPheLeuAspHisGluGlyTyrAlaAspHisPheLysSerLeuTyrAspPheSerPheSerPheLeuThrSerSerPheTyrSerPheSerGluGluAspGluPheValAlaTyrLeuGluAlaSerArgLysTrpAlaLysLysSerHisMetThrTrpAlaHisAlaArgLeuCysPheLeuLeuGlyArgLeuSerIleArgLysValLysLeuSerGlnAlaArgValTyrPheGluGluAlaIleHisIleLeuAsnGlyAlaPheGluAspLeuSerLeuValAlaThrLeuTyrIleAsnLeuAlaAlaIleTyrLeuLysGlnArgLeuArgHisLysGlySerAlaLeuLeuGluLysAlaGlyAlaLeuLeuAlaCysLeuProAspArgGluSerSerAlaLysHisGluLeuAspValValAlaTyrValLeuArgGlnGlyIleValValGlySerSerProLeuGluAlaArgAlaCysPheLeuAlaIleArgLeuLeuLeuSerLeuGlyArgHisGluGluValLeuProPheAlaGluArgLeuGlnLeuLeuSerGlyHisProProAlaSerGluAlaValAlaSerValLeuSerPheLeuTyrAspLysLysTyrLeuProHisLeuAlaValAlaSerValGlnGlnHisGlyIleGlnSerAlaGlnGlyMetSerLeuProIleTrpGlnValHisLeuValLeuGlnAsnThrThrLysLeuLeuGlyPheProSerProGlyTrpGlyGluValSerAlaLeuAlaCysProMetLeuArgGlnAlaLeuAlaAlaCysGluGluLeuAlaAspArgSerThrGlnArgAlaLeuCysLeuIleLeuSerLysValTyrLeuGluHisArgSerProAspGlyAlaIleHisTyrLeuSerGlnAlaLeuValLeuGlyGlnLeuLeuGlyGluGlnGluSerPheGluSerSerLeuCysLeuAlaTrpAlaTyrLeuLeuAlaSerGlnAlaLysLysAlaLeuAspValLeuGluProLeuLeuCysSerLeuLysGluThrGluSerLeuThrGlnArgGlyValIleTyrAsnLeuLeuGlyLeuAlaLeuGlnGlyGluGlyArgValAsnArgAlaAlaLysSerTyrLeuArgAlaLeuAsnArgAlaGlnGluValGlyAspValHisAsnGlnAlaValAlaMetAlaAsnLeuGlyHisLeuSerLeuLysSerTrpAlaGlnHisProAlaArgAsnTyrLeuLeuGlnAlaValArgLeuTyrCysGluLeuGlnAlaSerLysGluThrAspMetGluLeuValGlnValPheLeuTrpLeuAlaGlnValLeuValSerGlyHisGlnLeuThrHisGlyLeuLeuCysTyrGluMetAlaLeuLeuPheGlyLeuArgHisArgHisLeuLysSerGlnLeuGlnAlaThrLysSerLeuCysHisPheTyrSerSerValSerProAsnProGluAlaCysIleThrTyrHisGluHisTrpLeuAlaLeuAlaGlnGlnLeuArgAspArgGluMetGluGlyArgLeuLeuGluSerLeuGlyGlnLeuTyrArgAsnLeuAsnThrAlaArgSerLeuArgArgSerLeuThrCysIleLysGluSerLeuArgIlePheIleAspLeuGlyGluThrAspLysAlaAlaGluAlaTrpLeuGlyAlaGlyArgLeuHisTyrLeuMetGlnGluAspGluLeuValGluLeuCysLeuGlnAlaAlaIleGlnThrAlaLeuLysSerGluGluProLeuLeuAlaLeuLysLeuTyrGluGluAlaGlyAspValPhePheAsnGlyThrArgHisArgHisHisAlaValGluTyrTyrArgAlaGlyAlaValProLeuAlaArgArgLeuLysAlaValArgThrGluLeuArgIlePheAsnLysLeuThrGluLeuGlnIleSerLeuGluGlyTyrGluLysAlaLeuGluPheAlaThrLeuAlaAlaArgLeuSerThrValThrGlyAspGlnArgGlnGluLeuValAlaPheHisArgLeuAlaThrValTyrTyrSerLeuHisMetTyrGluMetAlaGluAspCysTyrLeuLysThrLeuSerLeuCysProProTrpLeuGlnSerProLysGluAlaLeuTyrTyrAlaLysValTyrTyrArgLeuGlyArgLeuThrPheCysGlnLeuLysAspAlaHisAspAlaThrGluTyrPheLeuLeuAlaLeuAlaAlaAlaValLeuLeuGlyAspGluGluLeuGlnAspThrIleArgSerArgLeuAspAsnIleCysGlnSerProLeuTrpHisSerArgProSerGlyCysSerSerGluArgAlaArgTrpLeuSerGlyGlyGlyLeuAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS342171" }, { "coordinates": [ { "allele": "A", "end": 887, "referenceAllele": "G", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000513604.5:c.*178G>A" ], "proteinEffect": { "hgvs": "ENSP00000423111.1:n.*178G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS343306" }, { "coordinates": [ { "allele": "A", "end": 1022, "referenceAllele": "G", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000515425.5:c.920G>A" ], "proteinEffect": { "hgvs": "ENSP00000423660.1:p.Trp307Ter", "hgvsWellDefined": "ENSP00000423660.1:p.Trp307_Leu1288delinsPheIleGlyLysSerThrSerSerGlyGlnValGlyPheValProThrArgAsnIleAspProAspSerTyrSerProMetSerArgAsnSerAlaPheLeuSerAspGluGluArgCysSerLeuLeuAlaLeuGlySerAspLysGlnThrGluCysSerSerPheLeuHisThrLeuAlaArgThrAspIleThrSerValTyrArgLeuSerGlyPheGluSerIleGlnAsnProProAsnAspLeuSerAlaSerGlnProGluGlyPheLysGluValArgProGlyArgAlaTrpGluGluHisGlnAlaValGlySerArgGlnSerSerSerSerGluAspSerSerLeuGluGluGluLeuLeuSerAlaThrSerAspSerTyrArgLeuProGluProAspAspLeuAspAspProGluLeuLeuMetAspLeuSerThrGlyGlnGluGluGluAlaGluAsnPheAlaProIleLeuAlaPheLeuAspHisGluGlyTyrAlaAspHisPheLysSerLeuTyrAspPheSerPheSerPheLeuThrSerSerPheTyrSerPheSerGluGluAspGluPheValAlaTyrLeuGluAlaSerArgLysTrpAlaLysLysSerHisMetThrTrpAlaHisAlaArgLeuCysPheLeuLeuGlyArgLeuSerIleArgLysValLysLeuSerGlnAlaArgValTyrPheGluGluAlaIleHisIleLeuAsnGlyAlaPheGluAspLeuSerLeuValAlaThrLeuTyrIleAsnLeuAlaAlaIleTyrLeuLysGlnArgLeuArgHisLysGlySerAlaLeuLeuGluLysAlaGlyAlaLeuLeuAlaCysLeuProAspArgGluSerSerAlaLysHisGluLeuAspValValAlaTyrValLeuArgGlnGlyIleValValGlySerSerProLeuGluAlaArgAlaCysPheLeuAlaIleArgLeuLeuLeuSerLeuGlyArgHisGluGluValLeuProPheAlaGluArgLeuGlnLeuLeuSerGlyHisProProAlaSerGluAlaValAlaSerValLeuSerPheLeuTyrAspLysLysTyrLeuProHisLeuAlaValAlaSerValGlnGlnHisGlyIleGlnSerAlaGlnGlyMetSerLeuProIleTrpGlnValHisLeuValLeuGlnAsnThrThrLysLeuLeuGlyPheProSerProGlyTrpGlyGluValSerAlaLeuAlaCysProMetLeuArgGlnAlaLeuAlaAlaCysGluGluLeuAlaAspArgSerThrGlnArgAlaLeuCysLeuIleLeuSerLysValTyrLeuGluHisArgSerProAspGlyAlaIleHisTyrLeuSerGlnAlaLeuValLeuGlyGlnLeuLeuGlyGluGlnGluSerPheGluSerSerLeuCysLeuAlaTrpAlaTyrLeuLeuAlaSerGlnAlaLysLysAlaLeuAspValLeuGluProLeuLeuCysSerLeuLysGluThrGluSerLeuThrGlnArgGlyValIleTyrAsnLeuLeuGlyLeuAlaLeuGlnGlyGluGlyArgValAsnArgAlaAlaLysSerTyrLeuArgAlaLeuAsnArgAlaGlnGluValGlyAspValHisAsnGlnAlaValAlaMetAlaAsnLeuGlyHisLeuSerLeuLysSerTrpAlaGlnHisProAlaArgAsnTyrLeuLeuGlnAlaValArgLeuTyrCysGluLeuGlnAlaSerLysGluThrAspMetGluLeuValGlnValPheLeuTrpLeuAlaGlnValLeuValSerGlyHisGlnLeuThrHisGlyLeuLeuCysTyrGluMetAlaLeuLeuPheGlyLeuArgHisArgHisLeuLysSerGlnLeuGlnAlaThrLysSerLeuCysHisPheTyrSerSerValSerProAsnProGluAlaCysIleThrTyrHisGluHisTrpLeuAlaLeuAlaGlnGlnLeuArgAspArgGluMetGluGlyArgLeuLeuGluSerLeuGlyGlnLeuTyrArgAsnLeuAsnThrAlaArgSerLeuArgArgSerLeuThrCysIleLysGluSerLeuArgIlePheIleAspLeuGlyGluThrAspLysAlaAlaGluAlaTrpLeuGlyAlaGlyArgLeuHisTyrLeuMetGlnGluAspGluLeuValGluLeuCysLeuGlnAlaAlaIleGlnThrAlaLeuLysSerGluGluProLeuLeuAlaLeuLysLeuTyrGluGluAlaGlyAspValPhePheAsnGlyThrArgHisArgHisHisAlaValGluTyrTyrArgAlaGlyAlaValProLeuAlaArgArgLeuLysAlaValArgThrGluLeuArgIlePheAsnLysLeuThrGluLeuGlnIleSerLeuGluGlyTyrGluLysAlaLeuGluPheAlaThrLeuAlaAlaArgLeuSerThrValThrGlyAspGlnArgGlnGluLeuValAlaPheHisArgLeuAlaThrValTyrTyrSerLeuHisMetTyrGluMetAlaGluAspCysTyrLeuLysThrLeuSerLeuCysProProTrpLeuGlnSerProLysGluAlaLeuTyrTyrAlaLysValTyrTyrArgLeuGlyArgLeuThrPheCysGlnLeuLysAspAlaHisAspAlaThrGluTyrPheLeuLeuAlaLeuAlaAlaAlaValLeuLeuGlyAspGluGluLeuGlnAspThrIleArgSerArgLeuAspAsnIleCysGlnSerProLeuTrpHisSerArgProSerGlyCysSerSerGluArgAlaArgTrpLeuSerGlyGlyGlyLeuAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS344659" }, { "@id": "http://reg.genome.network/allele/PA342393", "coordinates": [ { "allele": "A", "end": 1072, "referenceAllele": "G", "start": 1071 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "NM_024577.3:c.920G>A", "LRG_269t1:c.920G>A" ], "proteinEffect": { "hgvs": "NP_078853.2:p.Trp307Ter", "hgvsWellDefined": "NP_078853.2:p.Trp307_Leu1288delinsPheIleGlyLysSerThrSerSerGlyGlnValGlyPheValProThrArgAsnIleAspProAspSerTyrSerProMetSerArgAsnSerAlaPheLeuSerAspGluGluArgCysSerLeuLeuAlaLeuGlySerAspLysGlnThrGluCysSerSerPheLeuHisThrLeuAlaArgThrAspIleThrSerValTyrArgLeuSerGlyPheGluSerIleGlnAsnProProAsnAspLeuSerAlaSerGlnProGluGlyPheLysGluValArgProGlyArgAlaTrpGluGluHisGlnAlaValGlySerArgGlnSerSerSerSerGluAspSerSerLeuGluGluGluLeuLeuSerAlaThrSerAspSerTyrArgLeuProGluProAspAspLeuAspAspProGluLeuLeuMetAspLeuSerThrGlyGlnGluGluGluAlaGluAsnPheAlaProIleLeuAlaPheLeuAspHisGluGlyTyrAlaAspHisPheLysSerLeuTyrAspPheSerPheSerPheLeuThrSerSerPheTyrSerPheSerGluGluAspGluPheValAlaTyrLeuGluAlaSerArgLysTrpAlaLysLysSerHisMetThrTrpAlaHisAlaArgLeuCysPheLeuLeuGlyArgLeuSerIleArgLysValLysLeuSerGlnAlaArgValTyrPheGluGluAlaIleHisIleLeuAsnGlyAlaPheGluAspLeuSerLeuValAlaThrLeuTyrIleAsnLeuAlaAlaIleTyrLeuLysGlnArgLeuArgHisLysGlySerAlaLeuLeuGluLysAlaGlyAlaLeuLeuAlaCysLeuProAspArgGluSerSerAlaLysHisGluLeuAspValValAlaTyrValLeuArgGlnGlyIleValValGlySerSerProLeuGluAlaArgAlaCysPheLeuAlaIleArgLeuLeuLeuSerLeuGlyArgHisGluGluValLeuProPheAlaGluArgLeuGlnLeuLeuSerGlyHisProProAlaSerGluAlaValAlaSerValLeuSerPheLeuTyrAspLysLysTyrLeuProHisLeuAlaValAlaSerValGlnGlnHisGlyIleGlnSerAlaGlnGlyMetSerLeuProIleTrpGlnValHisLeuValLeuGlnAsnThrThrLysLeuLeuGlyPheProSerProGlyTrpGlyGluValSerAlaLeuAlaCysProMetLeuArgGlnAlaLeuAlaAlaCysGluGluLeuAlaAspArgSerThrGlnArgAlaLeuCysLeuIleLeuSerLysValTyrLeuGluHisArgSerProAspGlyAlaIleHisTyrLeuSerGlnAlaLeuValLeuGlyGlnLeuLeuGlyGluGlnGluSerPheGluSerSerLeuCysLeuAlaTrpAlaTyrLeuLeuAlaSerGlnAlaLysLysAlaLeuAspValLeuGluProLeuLeuCysSerLeuLysGluThrGluSerLeuThrGlnArgGlyValIleTyrAsnLeuLeuGlyLeuAlaLeuGlnGlyGluGlyArgValAsnArgAlaAlaLysSerTyrLeuArgAlaLeuAsnArgAlaGlnGluValGlyAspValHisAsnGlnAlaValAlaMetAlaAsnLeuGlyHisLeuSerLeuLysSerTrpAlaGlnHisProAlaArgAsnTyrLeuLeuGlnAlaValArgLeuTyrCysGluLeuGlnAlaSerLysGluThrAspMetGluLeuValGlnValPheLeuTrpLeuAlaGlnValLeuValSerGlyHisGlnLeuThrHisGlyLeuLeuCysTyrGluMetAlaLeuLeuPheGlyLeuArgHisArgHisLeuLysSerGlnLeuGlnAlaThrLysSerLeuCysHisPheTyrSerSerValSerProAsnProGluAlaCysIleThrTyrHisGluHisTrpLeuAlaLeuAlaGlnGlnLeuArgAspArgGluMetGluGlyArgLeuLeuGluSerLeuGlyGlnLeuTyrArgAsnLeuAsnThrAlaArgSerLeuArgArgSerLeuThrCysIleLysGluSerLeuArgIlePheIleAspLeuGlyGluThrAspLysAlaAlaGluAlaTrpLeuGlyAlaGlyArgLeuHisTyrLeuMetGlnGluAspGluLeuValGluLeuCysLeuGlnAlaAlaIleGlnThrAlaLeuLysSerGluGluProLeuLeuAlaLeuLysLeuTyrGluGluAlaGlyAspValPhePheAsnGlyThrArgHisArgHisHisAlaValGluTyrTyrArgAlaGlyAlaValProLeuAlaArgArgLeuLysAlaValArgThrGluLeuArgIlePheAsnLysLeuThrGluLeuGlnIleSerLeuGluGlyTyrGluLysAlaLeuGluPheAlaThrLeuAlaAlaArgLeuSerThrValThrGlyAspGlnArgGlnGluLeuValAlaPheHisArgLeuAlaThrValTyrTyrSerLeuHisMetTyrGluMetAlaGluAspCysTyrLeuLysThrLeuSerLeuCysProProTrpLeuGlnSerProLysGluAlaLeuTyrTyrAlaLysValTyrTyrArgLeuGlyArgLeuThrPheCysGlnLeuLysAspAlaHisAspAlaThrGluTyrPheLeuLeuAlaLeuAlaAlaAlaValLeuLeuGlyAspGluGluLeuGlnAspThrIleArgSerArgLeuAspAsnIleCysGlnSerProLeuTrpHisSerArgProSerGlyCysSerSerGluArgAlaArgTrpLeuSerGlyGlyGlyLeuAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037837" }, { "@id": "http://reg.genome.network/allele/PA342393", "coordinates": [ { "allele": "A", "end": 960, "referenceAllele": "G", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "NM_024577.4:c.920G>A" ], "proteinEffect": { "hgvs": "NP_078853.2:p.Trp307Ter", "hgvsWellDefined": "NP_078853.2:p.Trp307_Leu1288delinsPheIleGlyLysSerThrSerSerGlyGlnValGlyPheValProThrArgAsnIleAspProAspSerTyrSerProMetSerArgAsnSerAlaPheLeuSerAspGluGluArgCysSerLeuLeuAlaLeuGlySerAspLysGlnThrGluCysSerSerPheLeuHisThrLeuAlaArgThrAspIleThrSerValTyrArgLeuSerGlyPheGluSerIleGlnAsnProProAsnAspLeuSerAlaSerGlnProGluGlyPheLysGluValArgProGlyArgAlaTrpGluGluHisGlnAlaValGlySerArgGlnSerSerSerSerGluAspSerSerLeuGluGluGluLeuLeuSerAlaThrSerAspSerTyrArgLeuProGluProAspAspLeuAspAspProGluLeuLeuMetAspLeuSerThrGlyGlnGluGluGluAlaGluAsnPheAlaProIleLeuAlaPheLeuAspHisGluGlyTyrAlaAspHisPheLysSerLeuTyrAspPheSerPheSerPheLeuThrSerSerPheTyrSerPheSerGluGluAspGluPheValAlaTyrLeuGluAlaSerArgLysTrpAlaLysLysSerHisMetThrTrpAlaHisAlaArgLeuCysPheLeuLeuGlyArgLeuSerIleArgLysValLysLeuSerGlnAlaArgValTyrPheGluGluAlaIleHisIleLeuAsnGlyAlaPheGluAspLeuSerLeuValAlaThrLeuTyrIleAsnLeuAlaAlaIleTyrLeuLysGlnArgLeuArgHisLysGlySerAlaLeuLeuGluLysAlaGlyAlaLeuLeuAlaCysLeuProAspArgGluSerSerAlaLysHisGluLeuAspValValAlaTyrValLeuArgGlnGlyIleValValGlySerSerProLeuGluAlaArgAlaCysPheLeuAlaIleArgLeuLeuLeuSerLeuGlyArgHisGluGluValLeuProPheAlaGluArgLeuGlnLeuLeuSerGlyHisProProAlaSerGluAlaValAlaSerValLeuSerPheLeuTyrAspLysLysTyrLeuProHisLeuAlaValAlaSerValGlnGlnHisGlyIleGlnSerAlaGlnGlyMetSerLeuProIleTrpGlnValHisLeuValLeuGlnAsnThrThrLysLeuLeuGlyPheProSerProGlyTrpGlyGluValSerAlaLeuAlaCysProMetLeuArgGlnAlaLeuAlaAlaCysGluGluLeuAlaAspArgSerThrGlnArgAlaLeuCysLeuIleLeuSerLysValTyrLeuGluHisArgSerProAspGlyAlaIleHisTyrLeuSerGlnAlaLeuValLeuGlyGlnLeuLeuGlyGluGlnGluSerPheGluSerSerLeuCysLeuAlaTrpAlaTyrLeuLeuAlaSerGlnAlaLysLysAlaLeuAspValLeuGluProLeuLeuCysSerLeuLysGluThrGluSerLeuThrGlnArgGlyValIleTyrAsnLeuLeuGlyLeuAlaLeuGlnGlyGluGlyArgValAsnArgAlaAlaLysSerTyrLeuArgAlaLeuAsnArgAlaGlnGluValGlyAspValHisAsnGlnAlaValAlaMetAlaAsnLeuGlyHisLeuSerLeuLysSerTrpAlaGlnHisProAlaArgAsnTyrLeuLeuGlnAlaValArgLeuTyrCysGluLeuGlnAlaSerLysGluThrAspMetGluLeuValGlnValPheLeuTrpLeuAlaGlnValLeuValSerGlyHisGlnLeuThrHisGlyLeuLeuCysTyrGluMetAlaLeuLeuPheGlyLeuArgHisArgHisLeuLysSerGlnLeuGlnAlaThrLysSerLeuCysHisPheTyrSerSerValSerProAsnProGluAlaCysIleThrTyrHisGluHisTrpLeuAlaLeuAlaGlnGlnLeuArgAspArgGluMetGluGlyArgLeuLeuGluSerLeuGlyGlnLeuTyrArgAsnLeuAsnThrAlaArgSerLeuArgArgSerLeuThrCysIleLysGluSerLeuArgIlePheIleAspLeuGlyGluThrAspLysAlaAlaGluAlaTrpLeuGlyAlaGlyArgLeuHisTyrLeuMetGlnGluAspGluLeuValGluLeuCysLeuGlnAlaAlaIleGlnThrAlaLeuLysSerGluGluProLeuLeuAlaLeuLysLeuTyrGluGluAlaGlyAspValPhePheAsnGlyThrArgHisArgHisHisAlaValGluTyrTyrArgAlaGlyAlaValProLeuAlaArgArgLeuLysAlaValArgThrGluLeuArgIlePheAsnLysLeuThrGluLeuGlnIleSerLeuGluGlyTyrGluLysAlaLeuGluPheAlaThrLeuAlaAlaArgLeuSerThrValThrGlyAspGlnArgGlnGluLeuValAlaPheHisArgLeuAlaThrValTyrTyrSerLeuHisMetTyrGluMetAlaGluAspCysTyrLeuLysThrLeuSerLeuCysProProTrpLeuGlnSerProLysGluAlaLeuTyrTyrAlaLysValTyrTyrArgLeuGlyArgLeuThrPheCysGlnLeuLysAspAlaHisAspAlaThrGluTyrPheLeuLeuAlaLeuAlaAlaAlaValLeuLeuGlyAspGluGluLeuGlnAspThrIleArgSerArgLeuAspAsnIleCysGlnSerProLeuTrpHisSerArgProSerGlyCysSerSerGluArgAlaArgTrpLeuSerGlyGlyGlyLeuAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698719", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000515425.6:c.920G>A" }, "RefSeq": { "hgvs": "NM_024577.4:c.920G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000423660.1:p.Trp307Ter" }, "RefSeq": { "hgvs": "NP_078853.2:p.Trp307Ter" } } } } ], "type": "nucleotide" }