{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA223385758", "communityStandardTitle": [ "NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4877676", "active": true, "id": "COSM4877676" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=625212[alleleid]", "alleleId": 625212, "preferredName": "NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/637263", "RCV": [ "RCV000789337", "RCV001197171", "RCV001267649", "RCV001869221" ], "variationId": 637263 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68675744C>T?assembly=hg19", "id": "chr11:g.68675744C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68908276C>T?assembly=hg38", "id": "chr11:g.68908276C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/972425138", "rs": 972425138 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-68908276-C-T?dataset=gnomad_r4", "id": "11-68908276-C-T", "variant": "11:68908276 C / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 68908276, "referenceAllele": "C", "start": 68908275 } ], "hgvs": [ "NC_000011.10:g.68908276C>T", "CM000673.2:g.68908276C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 68675744, "referenceAllele": "C", "start": 68675743 } ], "hgvs": [ "NC_000011.9:g.68675744C>T", "CM000673.1:g.68675744C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 68432320, "referenceAllele": "C", "start": 68432319 } ], "hgvs": [ "NC_000011.8:g.68432320C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 9426, "referenceAllele": "C", "start": 9425 } ], "hgvs": [ "NG_007976.1:g.9426C>T", "LRG_250:g.9426C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000744" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.8:c.388C>T" ], "proteinEffect": { "hgvs": "ENSP00000255078.4:p.Arg130Ter", "hgvsWellDefined": "ENSP00000255078.4:p.Arg130_Thr993delinsGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741702", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255078.8:c.388C>T" }, "RefSeq": { "hgvs": "NM_002180.3:c.388C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255078.4:p.Arg130Ter" }, "RefSeq": { "hgvs": "NP_002171.2:p.Arg130Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000539224.2:c.351C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759589" }, { "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674583.1:c.351C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774529" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "C", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674597.1:c.199C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774542" }, { "coordinates": [ { "allele": "T", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674955.1:c.388C>T" ], "proteinEffect": { "hgvs": "ENSP00000502463.1:p.Arg130Ter", "hgvsWellDefined": "ENSP00000502463.1:p.Arg130_Gly464delinsGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysSerTyrGluLeuGlyThrPheValValPheArgGlyProGluGluAspValGlnGluIleLeuSerSerArgIleSerSerGlnGlyArgGlyGlnProArgSerTrpArgGlyCysAlaGlyArgThrValThrGlnProAspGlyThrProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774837" }, { "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675142.1:n.351C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775008" }, { "coordinates": [ { "allele": "T", "end": 264, "referenceAllele": "C", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675469.1:c.264C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775288" }, { "coordinates": [ { "allele": "T", "end": 478, "referenceAllele": "C", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675615.1:c.388C>T" ], "proteinEffect": { "hgvs": "ENSP00000502413.1:p.Arg130Ter", "hgvsWellDefined": "ENSP00000502413.1:p.Arg130_Arg875delinsGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysAspProTrpLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775408" }, { "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675674.1:n.351C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775461" }, { "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675873.1:c.351C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775637" }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "C", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676173.1:n.432C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775893" }, { "coordinates": [ { "allele": "T", "end": 478, "referenceAllele": "C", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676228.1:c.388C>T" ], "proteinEffect": { "hgvs": "ENSP00000502375.1:p.Arg130Ter", "hgvsWellDefined": "ENSP00000502375.1:p.Arg130_Gly192delinsGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysProAlaAspIleLeuGlnHisLeuProGlyHisLeuProGluArgSerGlyPheIleCysAlaValSerGluArgThrCysHisHisProTrpThrSerTrpHisTrpGluAsnHisAspCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775942" }, { "coordinates": [ { "allele": "T", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.7:c.388C>T" ], "proteinEffect": { "hgvs": "ENSP00000255078.3:p.Arg130Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS250071" }, { "coordinates": [ { "allele": "T", "end": 444, "referenceAllele": "C", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000539224.1:c.388C>T" ], "proteinEffect": { "hgvs": "ENSP00000440465.1:p.Arg130Ter", "hgvsWellDefined": "ENSP00000440465.1:p.Arg130_Gly192delinsGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysProAlaAspIleLeuGlnHisLeuProGlyHisLeuProGluArgSerGlyPheIleCysAlaValSerGluArgThrCysHisHisProTrpThrSerTrpHisTrpGluAsnHisAspCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361739" }, { "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000544541.1:c.*128C>T" ], "proteinEffect": { "hgvs": "ENSP00000443343.1:n.*128C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS364627" }, { "@id": "http://reg.genome.network/allele/PA915985418", "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.2:c.388C>T", "LRG_250t1:c.388C>T" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Arg130Ter", "hgvsWellDefined": "NP_002171.2:p.Arg130_Thr993delinsGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027500" }, { "coordinates": [ { "allele": "T", "end": 454, "referenceAllele": "C", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273974.2:c.-624C>T" ], "proteinEffect": { "hgvs": "XP_005274031.1:n.-624C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS067782" }, { "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273976.1:c.388C>T" ], "proteinEffect": { "hgvs": "XP_005274033.1:p.Arg130Ter", "hgvsWellDefined": "XP_005274033.1:p.Arg130_Pro540delinsGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisAsnLeuGlnSerValAspThrSerLeuAspGlyGlyHisTrpAlaGluThrGlnGlnThrMetValLeuProCysGlyAspThrGlyAlaLeuMetGlnTrpProGlyProGlyCysProGlyGlyAspThrGlyValLeuMetArgTrpProGlyProGlyCysProGlyGlyAspThrGlyAlaLeuMetGlnTrpProGlyProGlyCysLeuGlyGlyGluSerAlaAlaArgProProSerProProLeuThrSerProHisThrThrGlnHisSerLeuLeuGlnProHisArgProArgTrpProLeuCysLeuAspHisSerCysLeuGlyValAlaGlyValProSerLeuGlnMetAsnProLeuHisGlyIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067784" }, { "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_247198.1:n.490C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117297" }, { "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.1:n.490C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS143242" }, { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273976.2:c.388C>T" ], "proteinEffect": { "hgvs": "XP_005274033.1:p.Arg130Ter", "hgvsWellDefined": "XP_005274033.1:p.Arg130_Pro540delinsGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisAsnLeuGlnSerValAspThrSerLeuAspGlyGlyHisTrpAlaGluThrGlnGlnThrMetValLeuProCysGlyAspThrGlyAlaLeuMetGlnTrpProGlyProGlyCysProGlyGlyAspThrGlyValLeuMetArgTrpProGlyProGlyCysProGlyGlyAspThrGlyAlaLeuMetGlnTrpProGlyProGlyCysLeuGlyGlyGluSerAlaAlaArgProProSerProProLeuThrSerProHisThrThrGlnHisSerLeuLeuGlnProHisArgProArgTrpProLeuCysLeuAspHisSerCysLeuGlyValAlaGlyValProSerLeuGlnMetAsnProLeuHisGlyIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537534" }, { "coordinates": [ { "allele": "T", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017669.2:c.-526C>T" ], "proteinEffect": { "hgvs": "XP_016873158.1:n.-526C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS569798" }, { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017671.2:c.388C>T" ], "proteinEffect": { "hgvs": "XP_016873160.1:p.Arg130Ter", "hgvsWellDefined": "XP_016873160.1:p.Arg130_Pro546delinsGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569800" }, { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.3:n.486C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS615424" }, { "@id": "http://reg.genome.network/allele/PA915985418", "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.3:c.388C>T" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Arg130Ter", "hgvsWellDefined": "NP_002171.2:p.Arg130_Thr993delinsGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695474", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255078.8:c.388C>T" }, "RefSeq": { "hgvs": "NM_002180.3:c.388C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255078.4:p.Arg130Ter" }, "RefSeq": { "hgvs": "NP_002171.2:p.Arg130Ter" } } } } ], "type": "nucleotide" }