{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA223412133", "communityStandardTitle": [ "NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=552154[alleleid]", "alleleId": 552154, "preferredName": "NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/561032", "RCV": [ "RCV000856973", "RCV000790274", "RCV000680011", "RCV001218953" ], "variationId": 561032 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68702842C>T?assembly=hg19", "id": "chr11:g.68702842C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68935374C>T?assembly=hg38", "id": "chr11:g.68935374C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1000091588", "rs": 1000091588 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-68935374-C-T?dataset=gnomad_r3", "id": "11-68935374-C-T", "variant": "11:68935374 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-68935374-C-T?dataset=gnomad_r4", "id": "11-68935374-C-T", "variant": "11:68935374 C / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 68935374, "referenceAllele": "C", "start": 68935373 } ], "hgvs": [ "NC_000011.10:g.68935374C>T", "CM000673.2:g.68935374C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 68702842, "referenceAllele": "C", "start": 68702841 } ], "hgvs": [ "NC_000011.9:g.68702842C>T", "CM000673.1:g.68702842C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 68459418, "referenceAllele": "C", "start": 68459417 } ], "hgvs": [ "NC_000011.8:g.68459418C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 36524, "referenceAllele": "C", "start": 36523 } ], "hgvs": [ "NG_007976.1:g.36524C>T", "LRG_250:g.36524C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000744" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1770, "referenceAllele": "C", "start": 1769 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.8:c.1708C>T" ], "proteinEffect": { "hgvs": "ENSP00000255078.4:p.Arg570Ter", "hgvsWellDefined": "ENSP00000255078.4:p.Arg570_Thr993delinsGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741702", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255078.8:c.1708C>T" }, "RefSeq": { "hgvs": "NM_002180.3:c.1708C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255078.4:p.Arg570Ter" }, "RefSeq": { "hgvs": "NP_002171.2:p.Arg570Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1840, "referenceAllele": "C", "start": 1839 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674955.1:c.*425C>T" ], "proteinEffect": { "hgvs": "ENSP00000502463.1:n.*425C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774837" }, { "coordinates": [ { "allele": "T", "end": 1196, "referenceAllele": "C", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675118.1:c.1196C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774984" }, { "coordinates": [ { "allele": "T", "end": 1798, "referenceAllele": "C", "start": 1797 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675615.1:c.1708C>T" ], "proteinEffect": { "hgvs": "ENSP00000502413.1:p.Arg570Ter", "hgvsWellDefined": "ENSP00000502413.1:p.Arg570_Arg875delinsGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysAspProTrpLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775408" }, { "coordinates": [ { "allele": "T", "end": 1083, "referenceAllele": "C", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675648.1:n.1083C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775440" }, { "coordinates": [ { "allele": "T", "end": 2453, "referenceAllele": "C", "start": 2452 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676173.1:n.2453C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775893" }, { "coordinates": [ { "allele": "T", "end": 139, "referenceAllele": "C", "start": 138 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676182.1:c.139C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775902" }, { "coordinates": [ { "allele": "T", "end": 1700, "referenceAllele": "C", "start": 1699 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676228.1:c.*1031C>T" ], "proteinEffect": { "hgvs": "ENSP00000502375.1:n.*1031C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775942" }, { "coordinates": [ { "allele": "T", "end": 1819, "referenceAllele": "C", "start": 1818 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.7:c.1708C>T" ], "proteinEffect": { "hgvs": "ENSP00000255078.3:p.Arg570Ter", "hgvsWellDefined": "ENSP00000255078.3:p.Arg570_Thr993delinsGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250071" }, { "coordinates": [ { "allele": "T", "end": 1467, "referenceAllele": "C", "start": 1466 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000539064.5:n.1467C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS361658" }, { "coordinates": [ { "allele": "T", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000541229.5:n.403C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS362823" }, { "coordinates": [ { "allele": "T", "end": 749, "endIntronDirection": "+", "endIntronOffset": 816, "referenceAllele": "C", "start": 749, "startIntronDirection": "+", "startIntronOffset": 815 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000543739.5:n.749+816C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS364173" }, { "coordinates": [ { "allele": "T", "end": 304, "referenceAllele": "C", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000545475.1:n.304C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS365124" }, { "@id": "http://reg.genome.network/allele/PA658827870", "coordinates": [ { "allele": "T", "end": 1810, "referenceAllele": "C", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.2:c.1708C>T", "LRG_250t1:c.1708C>T" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Arg570Ter", "hgvsWellDefined": "NP_002171.2:p.Arg570_Thr993delinsGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027500" }, { "coordinates": [ { "allele": "T", "end": 1774, "referenceAllele": "C", "start": 1773 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273974.2:c.697C>T" ], "proteinEffect": { "hgvs": "XP_005274031.1:p.Arg233Ter", "hgvsWellDefined": "XP_005274031.1:p.Arg233_Thr656delinsGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067782" }, { "coordinates": [ { "allele": "T", "end": 817, "referenceAllele": "C", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273975.2:c.580C>T" ], "proteinEffect": { "hgvs": "XP_005274032.1:p.Arg194Ter", "hgvsWellDefined": "XP_005274032.1:p.Arg194_Thr617delinsGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067783" }, { "coordinates": [ { "allele": "T", "end": 1292, "referenceAllele": "C", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_011544994.1:c.475C>T" ], "proteinEffect": { "hgvs": "XP_011543296.1:p.Arg159Ter", "hgvsWellDefined": "XP_011543296.1:p.Arg159_Thr582delinsGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111901" }, { "coordinates": [ { "allele": "T", "end": 1810, "referenceAllele": "C", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.1:n.1810C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS143242" }, { "coordinates": [ { "allele": "T", "end": 905, "referenceAllele": "C", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273975.3:c.580C>T" ], "proteinEffect": { "hgvs": "XP_005274032.1:p.Arg194Ter", "hgvsWellDefined": "XP_005274032.1:p.Arg194_Thr617delinsGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537533" }, { "coordinates": [ { "allele": "T", "end": 1656, "referenceAllele": "C", "start": 1655 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017669.2:c.697C>T" ], "proteinEffect": { "hgvs": "XP_016873158.1:p.Arg233Ter", "hgvsWellDefined": "XP_016873158.1:p.Arg233_Thr656delinsGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569798" }, { "coordinates": [ { "allele": "T", "end": 2529, "referenceAllele": "C", "start": 2528 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017670.2:c.697C>T" ], "proteinEffect": { "hgvs": "XP_016873159.1:p.Arg233Ter", "hgvsWellDefined": "XP_016873159.1:p.Arg233_Thr656delinsGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569799" }, { "coordinates": [ { "allele": "T", "end": 1774, "referenceAllele": "C", "start": 1773 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017671.2:c.*35C>T" ], "proteinEffect": { "hgvs": "XP_016873160.1:n.*35C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS569800" }, { "coordinates": [ { "allele": "T", "end": 1806, "referenceAllele": "C", "start": 1805 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.3:n.1806C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS615424" }, { "@id": "http://reg.genome.network/allele/PA658827870", "coordinates": [ { "allele": "T", "end": 1770, "referenceAllele": "C", "start": 1769 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.3:c.1708C>T" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Arg570Ter", "hgvsWellDefined": "NP_002171.2:p.Arg570_Thr993delinsGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695474", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255078.8:c.1708C>T" }, "RefSeq": { "hgvs": "NM_002180.3:c.1708C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255078.4:p.Arg570Ter" }, "RefSeq": { "hgvs": "NP_002171.2:p.Arg570Ter" } } } } ], "type": "nucleotide" }