{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA381643780", "communityStandardTitle": [ "NM_002180.3(IGHMBP2):c.602T>A (p.Leu201Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68678962T>A?assembly=hg19", "id": "chr11:g.68678962T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68911494T>A?assembly=hg38", "id": "chr11:g.68911494T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/560096", "rs": 560096 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-68911494-T-A?dataset=gnomad_r4", "id": "11-68911494-T-A", "variant": "11:68911494 T / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 68911494, "referenceAllele": "T", "start": 68911493 } ], "hgvs": [ "NC_000011.10:g.68911494T>A", "CM000673.2:g.68911494T>A" ], "referenceGenome": "GRCh38", "referenceSequence": 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"geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.8:c.602T>A" ], "proteinEffect": { "hgvs": "ENSP00000255078.4:p.Leu201Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS741702", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255078.8:c.602T>A" }, "RefSeq": { "hgvs": "NM_002180.3:c.602T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255078.4:p.Leu201Ter" }, "RefSeq": { "hgvs": "NP_002171.2:p.Leu201Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 565, "referenceAllele": "T", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000539224.2:c.565T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS759589" }, { "coordinates": [ { "allele": "A", "end": 565, "referenceAllele": "T", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674583.1:c.565T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774529" }, { "coordinates": [ { "allele": "A", "end": 622, "referenceAllele": "T", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674955.1:c.602T>A" ], "proteinEffect": { "hgvs": "ENSP00000502463.1:p.Leu201Ter", "hgvsWellDefined": "ENSP00000502463.1:p.Leu201_Gly464delinsPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysSerTyrGluLeuGlyThrPheValValPheArgGlyProGluGluAspValGlnGluIleLeuSerSerArgIleSerSerGlnGlyArgGlyGlnProArgSerTrpArgGlyCysAlaGlyArgThrValThrGlnProAspGlyThrProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774837" }, { "coordinates": [ { "allele": "A", "end": 565, "referenceAllele": "T", "start": 564 } ], 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"ENSP00000502413.1:p.Leu201_Arg875delinsPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysAspProTrpLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775408" }, { "coordinates": [ { "allele": "A", "end": 565, "referenceAllele": "T", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675674.1:n.565T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775461" }, { "coordinates": [ { "allele": "A", "end": 98, "endIntronDirection": "+", "endIntronOffset": 2863, "referenceAllele": "T", "start": 98, "startIntronDirection": "+", "startIntronOffset": 2862 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675683.1:c.98+2863T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775469" }, { "coordinates": [ { "allele": "A", "end": 565, "referenceAllele": "T", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675873.1:c.565T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775637" }, { "coordinates": [ { "allele": "A", "end": 646, "referenceAllele": "T", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676173.1:n.646T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775893" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "T", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676228.1:c.504T>A" ], "proteinEffect": { "hgvs": "ENSP00000502375.1:p.Phe168Leu", "hgvsWellDefined": "ENSP00000502375.1:p.Phe168Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS775942" }, { "coordinates": [ { "allele": "A", "end": 713, "referenceAllele": "T", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.7:c.602T>A" ], "proteinEffect": { "hgvs": "ENSP00000255078.3:p.Leu201Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS250071" }, { "coordinates": [ { "allele": "A", "end": 560, "referenceAllele": "T", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000539224.1:c.504T>A" ], "proteinEffect": { "hgvs": "ENSP00000440465.1:p.Phe168Leu", "hgvsWellDefined": "ENSP00000440465.1:p.Phe168Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS361739" }, { "@id": "http://reg.genome.network/allele/PA3077688374", "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "T", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.2:c.602T>A", "LRG_250t1:c.602T>A" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Leu201Ter", "hgvsWellDefined": "NP_002171.2:p.Leu201_Thr993delinsPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027500" }, { "coordinates": [ { "allele": "A", "end": 668, "referenceAllele": "T", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273974.2:c.-410T>A" ], "proteinEffect": { "hgvs": "XP_005274031.1:n.-410T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS067782" }, { "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "T", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273976.1:c.602T>A" ], "proteinEffect": { "hgvs": "XP_005274033.1:p.Leu201Ter", "hgvsWellDefined": "XP_005274033.1:p.Leu201_Pro540delinsPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisAsnLeuGlnSerValAspThrSerLeuAspGlyGlyHisTrpAlaGluThrGlnGlnThrMetValLeuProCysGlyAspThrGlyAlaLeuMetGlnTrpProGlyProGlyCysProGlyGlyAspThrGlyValLeuMetArgTrpProGlyProGlyCysProGlyGlyAspThrGlyAlaLeuMetGlnTrpProGlyProGlyCysLeuGlyGlyGluSerAlaAlaArgProProSerProProLeuThrSerProHisThrThrGlnHisSerLeuLeuGlnProHisArgProArgTrpProLeuCysLeuAspHisSerCysLeuGlyValAlaGlyValProSerLeuGlnMetAsnProLeuHisGlyIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067784" }, { "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "T", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_247198.1:n.704T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS117297" }, { "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "T", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.1:n.704T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS143242" }, { "coordinates": [ { "allele": "A", "end": 700, "referenceAllele": "T", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273976.2:c.602T>A" ], "proteinEffect": { "hgvs": "XP_005274033.1:p.Leu201Ter", "hgvsWellDefined": "XP_005274033.1:p.Leu201_Pro540delinsPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisAsnLeuGlnSerValAspThrSerLeuAspGlyGlyHisTrpAlaGluThrGlnGlnThrMetValLeuProCysGlyAspThrGlyAlaLeuMetGlnTrpProGlyProGlyCysProGlyGlyAspThrGlyValLeuMetArgTrpProGlyProGlyCysProGlyGlyAspThrGlyAlaLeuMetGlnTrpProGlyProGlyCysLeuGlyGlyGluSerAlaAlaArgProProSerProProLeuThrSerProHisThrThrGlnHisSerLeuLeuGlnProHisArgProArgTrpProLeuCysLeuAspHisSerCysLeuGlyValAlaGlyValProSerLeuGlnMetAsnProLeuHisGlyIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537534" }, { "coordinates": [ { "allele": "A", "end": 550, "referenceAllele": "T", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017669.2:c.-410T>A" ], "proteinEffect": { "hgvs": "XP_016873158.1:n.-410T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS569798" }, { "coordinates": [ { "allele": "A", "end": 700, "referenceAllele": "T", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017671.2:c.602T>A" ], "proteinEffect": { "hgvs": "XP_016873160.1:p.Leu201Ter", "hgvsWellDefined": "XP_016873160.1:p.Leu201_Pro546delinsPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569800" }, { "coordinates": [ { "allele": "A", "end": 700, "referenceAllele": "T", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.3:n.700T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS615424" }, { "@id": "http://reg.genome.network/allele/PA3077688374", "coordinates": [ { "allele": "A", "end": 664, "referenceAllele": "T", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.3:c.602T>A" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Leu201Ter", "hgvsWellDefined": "NP_002171.2:p.Leu201_Thr993delinsPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695474", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255078.8:c.602T>A" }, "RefSeq": { "hgvs": "NM_002180.3:c.602T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255078.4:p.Leu201Ter" }, "RefSeq": { "hgvs": "NP_002171.2:p.Leu201Ter" } } } } ], "type": "nucleotide" }