{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA346109", "communityStandardTitle": [ "NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=171902[alleleid]", "alleleId": 171902, "preferredName": "NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162194", "RCV": [ "RCV000149574", "RCV000255598", "RCV000550952", "RCV000790277", "RCV000995566", "RCV001814070", "RCV002390316" ], "variationId": 162194 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-68673588-T-A", "id": "11-68673588-T-A", "variant": "11:68673588 T / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68673588T>A?assembly=hg19", "id": "chr11:g.68673588T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68906120T>A?assembly=hg38", "id": "chr11:g.68906120T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/372000714", "rs": 372000714 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-68673588-T-A?dataset=gnomad_r2_1", "id": "11-68673588-T-A", "variant": "11:68673588 T / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-68906120-T-A?dataset=gnomad_r3", "id": "11-68906120-T-A", "variant": "11:68906120 T / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-68906120-T-A?dataset=gnomad_r4", "id": "11-68906120-T-A", "variant": "11:68906120 T / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 68906120, "referenceAllele": "T", "start": 68906119 } ], "hgvs": [ "NC_000011.10:g.68906120T>A", "CM000673.2:g.68906120T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 68673588, "referenceAllele": "T", "start": 68673587 } ], "hgvs": [ "NC_000011.9:g.68673588T>A", "CM000673.1:g.68673588T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 68430164, "referenceAllele": "T", "start": 68430163 } ], "hgvs": [ "NC_000011.8:g.68430164T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 7270, "referenceAllele": "T", "start": 7269 } ], "hgvs": [ "NG_007976.1:g.7270T>A", "LRG_250:g.7270T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000744" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 200, "referenceAllele": "T", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.8:c.138T>A" ], "proteinEffect": { "hgvs": "ENSP00000255078.4:p.Cys46Ter", "hgvsWellDefined": "ENSP00000255078.4:p.Cys46_Thr993delinsLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741702", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255078.8:c.138T>A" }, "RefSeq": { "hgvs": "NM_002180.3:c.138T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255078.4:p.Cys46Ter" }, "RefSeq": { "hgvs": "NP_002171.2:p.Cys46Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 101, "referenceAllele": "T", "start": 100 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000539224.2:c.101T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS759589" }, { "coordinates": [ { "allele": "A", "end": 101, "referenceAllele": "T", "start": 100 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674583.1:c.101T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774529" }, { "coordinates": [ { "allele": "A", "end": 52, "referenceAllele": "T", "start": 51 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674597.1:c.52T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774542" }, { "coordinates": [ { "allele": "A", "end": 81, "referenceAllele": "T", "start": 80 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674729.1:n.81T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774652" }, { "coordinates": [ { "allele": "A", "end": 158, "referenceAllele": "T", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674955.1:c.138T>A" ], "proteinEffect": { "hgvs": "ENSP00000502463.1:p.Cys46Ter", "hgvsWellDefined": "ENSP00000502463.1:p.Cys46_Gly464delinsLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysSerTyrGluLeuGlyThrPheValValPheArgGlyProGluGluAspValGlnGluIleLeuSerSerArgIleSerSerGlnGlyArgGlyGlnProArgSerTrpArgGlyCysAlaGlyArgThrValThrGlnProAspGlyThrProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774837" }, { "coordinates": [ { "allele": "A", "end": 101, "referenceAllele": "T", "start": 100 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675142.1:n.101T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775008" }, { "coordinates": [ { "allele": "A", "end": 52, "referenceAllele": "T", "start": 51 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675469.1:c.52T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775288" }, { "coordinates": [ { "allele": "A", "end": 228, "referenceAllele": "T", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675615.1:c.138T>A" ], "proteinEffect": { "hgvs": "ENSP00000502413.1:p.Cys46Ter", "hgvsWellDefined": "ENSP00000502413.1:p.Cys46_Arg875delinsLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysAspProTrpLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775408" }, { "coordinates": [ { "allele": "A", "end": 101, "referenceAllele": "T", "start": 100 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675674.1:n.101T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775461" }, { "coordinates": [ { "allele": "A", "end": 83, "referenceAllele": "T", "start": 82 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675800.1:n.83T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775571" }, { "coordinates": [ { "allele": "A", "end": 101, "referenceAllele": "T", "start": 100 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675873.1:c.101T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775637" }, { "coordinates": [ { "allele": "A", "end": 178, "referenceAllele": "T", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676173.1:n.178T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775893" }, { "coordinates": [ { "allele": "A", "end": 228, "referenceAllele": "T", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676228.1:c.138T>A" ], "proteinEffect": { "hgvs": "ENSP00000502375.1:p.Cys46Ter", "hgvsWellDefined": "ENSP00000502375.1:p.Cys46_Gly192delinsLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysProAlaAspIleLeuGlnHisLeuProGlyHisLeuProGluArgSerGlyPheIleCysAlaValSerGluArgThrCysHisHisProTrpThrSerTrpHisTrpGluAsnHisAspCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775942" }, { "coordinates": [ { "allele": "A", "end": 249, "referenceAllele": "T", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.7:c.138T>A" ], "proteinEffect": { "hgvs": "ENSP00000255078.3:p.Cys46Ter", "hgvsWellDefined": "ENSP00000255078.3:p.Cys46_Thr993delinsLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250071" }, { "coordinates": [ { "allele": "A", "end": 194, "referenceAllele": "T", "start": 193 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000539224.1:c.138T>A" ], "proteinEffect": { "hgvs": "ENSP00000440465.1:p.Cys46Ter", "hgvsWellDefined": "ENSP00000440465.1:p.Cys46_Gly192delinsLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysProAlaAspIleLeuGlnHisLeuProGlyHisLeuProGluArgSerGlyPheIleCysAlaValSerGluArgThrCysHisHisProTrpThrSerTrpHisTrpGluAsnHisAspCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361739" }, { "coordinates": [ { "allele": "A", "end": 148, "endIntronDirection": "-", "endIntronOffset": 2024, "referenceAllele": "T", "start": 148, "startIntronDirection": "-", "startIntronOffset": 2025 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000544541.1:c.87-2025T>A" ], "proteinEffect": { "hgvs": "ENSP00000443343.1:n.87-2025T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS364627" }, { "coordinates": [ { "allele": "A", "end": 165, "referenceAllele": "T", "start": 164 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000545146.1:c.138T>A" ], "proteinEffect": { "hgvs": "ENSP00000456366.1:p.Cys46Ter", "hgvsWellDefined": "ENSP00000456366.1:p.Cys46_Thr91delinsLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyValCysValLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS364954" }, { "@id": "http://reg.genome.network/allele/PA346111", "coordinates": [ { "allele": "A", "end": 240, "referenceAllele": "T", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.2:c.138T>A", "LRG_250t1:c.138T>A" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Cys46Ter", "hgvsWellDefined": "NP_002171.2:p.Cys46_Thr993delinsLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027500" }, { "coordinates": [ { "allele": "A", "end": 200, "referenceAllele": "T", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273974.2:c.-878T>A" ], "proteinEffect": { "hgvs": "XP_005274031.1:n.-878T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS067782" }, { "coordinates": [ { "allele": "A", "end": 240, "referenceAllele": "T", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273976.1:c.138T>A" ], "proteinEffect": { "hgvs": "XP_005274033.1:p.Cys46Ter", "hgvsWellDefined": "XP_005274033.1:p.Cys46_Pro540delinsLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisAsnLeuGlnSerValAspThrSerLeuAspGlyGlyHisTrpAlaGluThrGlnGlnThrMetValLeuProCysGlyAspThrGlyAlaLeuMetGlnTrpProGlyProGlyCysProGlyGlyAspThrGlyValLeuMetArgTrpProGlyProGlyCysProGlyGlyAspThrGlyAlaLeuMetGlnTrpProGlyProGlyCysLeuGlyGlyGluSerAlaAlaArgProProSerProProLeuThrSerProHisThrThrGlnHisSerLeuLeuGlnProHisArgProArgTrpProLeuCysLeuAspHisSerCysLeuGlyValAlaGlyValProSerLeuGlnMetAsnProLeuHisGlyIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067784" }, { "coordinates": [ { "allele": "A", "end": 240, "referenceAllele": "T", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_247198.1:n.240T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS117297" }, { "coordinates": [ { "allele": "A", "end": 240, "referenceAllele": "T", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.1:n.240T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS143242" }, { "coordinates": [ { "allele": "A", "end": 236, "referenceAllele": "T", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273976.2:c.138T>A" ], "proteinEffect": { "hgvs": "XP_005274033.1:p.Cys46Ter", "hgvsWellDefined": "XP_005274033.1:p.Cys46_Pro540delinsLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisAsnLeuGlnSerValAspThrSerLeuAspGlyGlyHisTrpAlaGluThrGlnGlnThrMetValLeuProCysGlyAspThrGlyAlaLeuMetGlnTrpProGlyProGlyCysProGlyGlyAspThrGlyValLeuMetArgTrpProGlyProGlyCysProGlyGlyAspThrGlyAlaLeuMetGlnTrpProGlyProGlyCysLeuGlyGlyGluSerAlaAlaArgProProSerProProLeuThrSerProHisThrThrGlnHisSerLeuLeuGlnProHisArgProArgTrpProLeuCysLeuAspHisSerCysLeuGlyValAlaGlyValProSerLeuGlnMetAsnProLeuHisGlyIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537534" }, { "coordinates": [ { "allele": "A", "end": 184, "referenceAllele": "T", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017669.2:c.-776T>A" ], "proteinEffect": { "hgvs": "XP_016873158.1:n.-776T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS569798" }, { "coordinates": [ { "allele": "A", "end": 236, "referenceAllele": "T", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017671.2:c.138T>A" ], "proteinEffect": { "hgvs": "XP_016873160.1:p.Cys46Ter", "hgvsWellDefined": "XP_016873160.1:p.Cys46_Pro546delinsLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569800" }, { "coordinates": [ { "allele": "A", "end": 236, "referenceAllele": "T", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.3:n.236T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS615424" }, { "@id": "http://reg.genome.network/allele/PA346111", "coordinates": [ { "allele": "A", "end": 200, "referenceAllele": "T", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.3:c.138T>A" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Cys46Ter", "hgvsWellDefined": "NP_002171.2:p.Cys46_Thr993delinsLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695474", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255078.8:c.138T>A" }, "RefSeq": { "hgvs": "NM_002180.3:c.138T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255078.4:p.Cys46Ter" }, "RefSeq": { "hgvs": "NP_002171.2:p.Cys46Ter" } } } } ], "type": "nucleotide" }