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"end": 250, "referenceAllele": "C", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674597.1:c.250C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774542" }, { "coordinates": [ { "allele": "T", "end": 459, "referenceAllele": "C", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674955.1:c.439C>T" ], "proteinEffect": { "hgvs": "ENSP00000502463.1:p.Arg147Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS775408" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "C", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675674.1:n.402C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775461" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "C", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675873.1:c.402C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775637" }, { "coordinates": [ { "allele": "T", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676173.1:n.483C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775893" }, { "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "C", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676228.1:c.439C>T" ], "proteinEffect": { "hgvs": "ENSP00000502375.1:p.Arg147Ter", "hgvsWellDefined": "ENSP00000502375.1:p.Arg147_Gly192delinsLeuLysLysProAlaAspIleLeuGlnHisLeuProGlyHisLeuProGluArgSerGlyPheIleCysAlaValSerGluArgThrCysHisHisProTrpThrSerTrpHisTrpGluAsnHisAspCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775942" }, { "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "C", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.7:c.439C>T" ], "proteinEffect": { "hgvs": "ENSP00000255078.3:p.Arg147Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS027500" }, { "coordinates": [ { "allele": "T", "end": 505, "referenceAllele": "C", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273974.2:c.-573C>T" ], "proteinEffect": { "hgvs": "XP_005274031.1:n.-573C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS067782" }, { "coordinates": [ { "allele": "T", "end": 541, "referenceAllele": "C", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273976.1:c.439C>T" ], "proteinEffect": { "hgvs": "XP_005274033.1:p.Arg147Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS067784" }, { "coordinates": [ { "allele": "T", "end": 541, "referenceAllele": "C", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_247198.1:n.541C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117297" }, { "coordinates": [ { "allele": "T", "end": 541, "referenceAllele": "C", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.1:n.541C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS143242" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273976.2:c.439C>T" ], "proteinEffect": { "hgvs": "XP_005274033.1:p.Arg147Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS537534" }, { "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "C", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017669.2:c.-475C>T" ], "proteinEffect": { "hgvs": "XP_016873158.1:n.-475C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS569798" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017671.2:c.439C>T" ], "proteinEffect": { "hgvs": "XP_016873160.1:p.Arg147Ter", "hgvsWellDefined": "XP_016873160.1:p.Arg147_Pro546delinsLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569800" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.3:n.537C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS615424" }, { "@id": "http://reg.genome.network/allele/PA658813749", "coordinates": [ { "allele": "T", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.3:c.439C>T" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Arg147Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS695474", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255078.8:c.439C>T" }, "RefSeq": { "hgvs": "NM_002180.3:c.439C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255078.4:p.Arg147Ter" }, "RefSeq": { "hgvs": "NP_002171.2:p.Arg147Ter" } } } } ], "type": "nucleotide" }