{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA223392614", "communityStandardTitle": [ "NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=512853[alleleid]", "alleleId": 512853, "preferredName": "NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522258", "RCV": [ "RCV000625148", "RCV000789658", "RCV001700268", "RCV003767833" ], "variationId": 522258 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68682483C>T?assembly=hg19", "id": "chr11:g.68682483C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68915015C>T?assembly=hg38", "id": "chr11:g.68915015C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/557416644", "rs": 557416644 } ], "gnomAD_2": [ { "@id": 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"start": 68439058 } ], "hgvs": [ "NC_000011.8:g.68439059C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 16165, "referenceAllele": "C", "start": 16164 } ], "hgvs": [ "NG_007976.1:g.16165C>T", "LRG_250:g.16165C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000744" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.8:c.904C>T" ], "proteinEffect": { "hgvs": "ENSP00000255078.4:p.Gln302Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675119.1:c.193C>T" ], "proteinEffect": { "hgvs": "ENSP00000501861.1:p.Gln65Ter", "hgvsWellDefined": "ENSP00000501861.1:p.Gln65_Ser81delinsValPheArgGlnArgPheThrValLeuAlaArgLeuValSerIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774985" }, { "coordinates": [ { "allele": "T", "end": 193, "referenceAllele": "C", "start": 192 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675305.1:c.193C>T" ], "proteinEffect": { "hgvs": "ENSP00000502365.1:p.Gln65Ter", "hgvsWellDefined": "ENSP00000502365.1:p.Gln65_Leu74delinsValPheAspLeuLysCysLeuPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775142" }, { "coordinates": [ { "allele": "T", "end": 193, "referenceAllele": "C", "start": 192 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675464.1:c.193C>T" ], "proteinEffect": { "hgvs": "ENSP00000502650.1:p.Gln65Ter", "hgvsWellDefined": "ENSP00000502650.1:p.Gln65Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS775283" }, { "coordinates": [ { "allele": "T", "end": 994, "referenceAllele": "C", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675615.1:c.904C>T" ], "proteinEffect": { "hgvs": "ENSP00000502413.1:p.Gln302Ter", "hgvsWellDefined": "ENSP00000502413.1:p.Gln302_Arg875delinsValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysAspProTrpLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775408" }, { "coordinates": [ { "allele": "T", "end": 291, "referenceAllele": "C", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675683.1:c.291C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775469" }, { "coordinates": [ { "allele": "T", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676173.1:n.948C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775893" }, { "coordinates": [ { "allele": "T", "end": 896, "referenceAllele": "C", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676228.1:c.*227C>T" ], "proteinEffect": { "hgvs": "ENSP00000502375.1:n.*227C>T" }, "referenceSequence": 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"ENSP00000255078.3:p.Gln302_Thr993delinsValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250071" }, { "@id": "http://reg.genome.network/allele/PA658813778", "coordinates": [ { "allele": "T", "end": 1006, "referenceAllele": "C", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.2:c.904C>T", "LRG_250t1:c.904C>T" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Gln302Ter", "hgvsWellDefined": 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