{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA115862", "communityStandardTitle": [ "NM_030962.4(SBF2):c.2875C>T (p.Gln959Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17949[alleleid]", "alleleId": 17949, "preferredName": "NM_030962.4(SBF2):c.2875C>T (p.Gln959Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2910", "RCV": [ "RCV000003044" ], "variationId": 2910 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.9868562G>A?assembly=hg19", "id": "chr11:g.9868562G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.9847015G>A?assembly=hg38", "id": "chr11:g.9847015G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/120074137", "rs": 120074137 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 9847015, "referenceAllele": "G", "start": 9847014 } ], "hgvs": [ "NC_000011.10:g.9847015G>A", "CM000673.2:g.9847015G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 9868562, "referenceAllele": "G", "start": 9868561 } ], "hgvs": [ "NC_000011.9:g.9868562G>A", "CM000673.1:g.9868562G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 9825138, "referenceAllele": "G", "start": 9825137 } ], "hgvs": [ "NC_000011.8:g.9825138G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 452193, "referenceAllele": "C", "start": 452192 } ], "hgvs": [ "NG_008074.1:g.452193C>T", "LRG_267:g.452193C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000819" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000420722.3:c.1579C>T" ], "proteinEffect": { "hgvs": "ENSP00000410478.3:p.Gln527Ter", "hgvsWellDefined": "ENSP00000410478.3:p.Gln527_Ala727delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerProGluIleAspLysAsnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824698" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000530741.2:c.1579C>T" ], "proteinEffect": { "hgvs": "ENSP00000432643.2:p.Gln527Ter", "hgvsWellDefined": "ENSP00000432643.2:p.Gln527_Gln1002del" }, "referenceSequence": "http://reg.genome.network/refseq/RS825792" }, { "coordinates": [ { "allele": "T", "end": 2875, "referenceAllele": "C", "start": 2874 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000533770.6:c.2875C>T" ], "proteinEffect": { "hgvs": "ENSP00000509247.1:p.Gln959Ter", "hgvsWellDefined": "ENSP00000509247.1:p.Gln959_Arg1152delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825834" }, { "coordinates": [ { "allele": "T", "end": 3025, "referenceAllele": "C", "start": 3024 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000675281.2:c.2875C>T" ], "proteinEffect": { "hgvs": "ENSP00000502491.1:p.Gln959Ter", "hgvsWellDefined": "ENSP00000502491.1:p.Gln959_Ala1874delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProValHisGlyTyrArgAspLysCysPheThrGlnSerAsnProLysSerSerAlaLysGlyArgValHisAsnGlnGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826906" }, { "coordinates": [ { "allele": "T", "end": 3013, "referenceAllele": "C", "start": 3012 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000676324.2:c.2875C>T" ], "proteinEffect": { "hgvs": "ENSP00000502578.1:p.Gln959Ter", "hgvsWellDefined": "ENSP00000502578.1:p.Gln959_Met1267delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProValIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826924" }, { "coordinates": [ { "allele": "T", "end": 2899, "referenceAllele": "C", "start": 2898 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000676387.2:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000502779.1:p.Gln921Ter", "hgvsWellDefined": "ENSP00000502779.1:p.Gln921_Ala1868delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyValHisGlyTyrArgAspLysCysPheThrGlnSerAsnProLysSerSerAlaLysGlyArgValHisAsnGlnGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826925" }, { "coordinates": [ { "allele": "T", "end": 2482, "referenceAllele": "C", "start": 2481 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000688344.1:c.2482C>T" ], "proteinEffect": { "hgvs": "ENSP00000509987.1:p.Gln828Ter", "hgvsWellDefined": "ENSP00000509987.1:p.Gln828_Ala1718delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831581" }, { "coordinates": [ { "allele": "T", "end": 2934, "referenceAllele": "C", "start": 2933 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000689128.1:c.2875C>T" ], "proteinEffect": { "hgvs": "ENSP00000509587.1:p.Gln959Ter", "hgvsWellDefined": "ENSP00000509587.1:p.Gln959_Ala1881delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832008" }, { "coordinates": [ { "allele": "T", "end": 2878, "referenceAllele": "C", "start": 2877 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000689258.1:c.2737C>T" ], "proteinEffect": { "hgvs": "ENSP00000510475.1:p.Gln913Ter", "hgvsWellDefined": "ENSP00000510475.1:p.Gln913_Ala1828delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProValHisGlyTyrArgAspLysCysPheThrGlnSerAsnProLysSerSerAlaLysGlyArgValHisAsnGlnGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832077" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000689597.1:c.1579C>T" ], "proteinEffect": { "hgvs": "ENSP00000510781.1:p.Gln527Ter", "hgvsWellDefined": "ENSP00000510781.1:p.Gln527_Arg1312delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832254" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000689674.1:c.1579C>T" ], "proteinEffect": { "hgvs": "ENSP00000510723.1:p.Gln527Ter", "hgvsWellDefined": "ENSP00000510723.1:p.Gln527_Ser673delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrGlyThrThrLeuLysAlaSerIleAlaLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832294" }, { "coordinates": [ { "allele": "T", "end": 3027, "referenceAllele": "C", "start": 3026 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000689940.1:c.2869C>T" ], "proteinEffect": { "hgvs": "ENSP00000508452.1:p.Gln957Ter", "hgvsWellDefined": "ENSP00000508452.1:p.Gln957_Ala1847delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832455" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000690003.1:c.1579C>T" ], "proteinEffect": { "hgvs": "ENSP00000508748.1:p.Gln527Ter", "hgvsWellDefined": "ENSP00000508748.1:p.Gln527_Ser673delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrGlyThrThrLeuLysThrSerIleAlaLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832487" }, { "coordinates": [ { "allele": "T", "end": 2898, "referenceAllele": "C", "start": 2897 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000692716.1:c.2746C>T" ], "proteinEffect": { "hgvs": "ENSP00000509545.1:p.Gln916Ter", "hgvsWellDefined": "ENSP00000509545.1:p.Gln916_Ala1806delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833846" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000693181.1:c.1579C>T" ], "proteinEffect": { "hgvs": "ENSP00000510179.1:p.Gln527Ter", "hgvsWellDefined": "ENSP00000510179.1:p.Gln527_Ala727delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerProGluIleAspLysAsnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834103" }, { "coordinates": [ { "allele": "T", "end": 3025, "referenceAllele": "C", "start": 3024 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000256190.13:c.2875C>T" ], "proteinEffect": { "hgvs": "ENSP00000256190.8:p.Gln959Ter", "hgvsWellDefined": "ENSP00000256190.8:p.Gln959_Ala1849delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741753", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256190.13:c.2875C>T" }, "RefSeq": { "hgvs": "NM_030962.4:c.2875C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256190.8:p.Gln959Ter" }, "RefSeq": { "hgvs": "NP_112224.1:p.Gln959Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3025, "referenceAllele": "C", "start": 3024 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000675281.1:c.2875C>T" ], "proteinEffect": { "hgvs": "ENSP00000502491.1:p.Gln959Ter", "hgvsWellDefined": "ENSP00000502491.1:p.Gln959_Ala1874delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProValHisGlyTyrArgAspLysCysPheThrGlnSerAsnProLysSerSerAlaLysGlyArgValHisAsnGlnGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775121" }, { "coordinates": [ { "allele": "T", "end": 3013, "referenceAllele": "C", "start": 3012 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000676324.1:c.2875C>T" ], "proteinEffect": { "hgvs": "ENSP00000502578.1:p.Gln959Ter", "hgvsWellDefined": "ENSP00000502578.1:p.Gln959_Met1267delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProValIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776020" }, { "coordinates": [ { "allele": "T", "end": 2899, "referenceAllele": "C", "start": 2898 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000676387.1:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000502779.1:p.Gln921Ter", "hgvsWellDefined": "ENSP00000502779.1:p.Gln921_Ala1868delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyValHisGlyTyrArgAspLysCysPheThrGlnSerAsnProLysSerSerAlaLysGlyArgValHisAsnGlnGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776076" }, { "coordinates": [ { "allele": "T", "end": 3013, "referenceAllele": "C", "start": 3012 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000256190.12:c.2875C>T" ], "proteinEffect": { "hgvs": "ENSP00000256190.8:p.Gln959Ter", "hgvsWellDefined": "ENSP00000256190.8:p.Gln959_Ala1849delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250151" }, { "coordinates": [ { "allele": "T", "end": 2790, "referenceAllele": "C", "start": 2789 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000533770.5:n.2790C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358488" }, { "coordinates": [ { "allele": "T", "end": 2734, "referenceAllele": "C", "start": 2733 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000617179.4:c.2734C>T" ], "proteinEffect": { "hgvs": "ENSP00000482806.1:p.Gln912Ter", "hgvsWellDefined": "ENSP00000482806.1:p.Gln912_Ala1802delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403370" }, { "@id": "http://reg.genome.network/allele/PA115864", "coordinates": [ { "allele": "T", "end": 3013, "referenceAllele": "C", "start": 3012 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "NM_030962.3:c.2875C>T", "LRG_267t1:c.2875C>T" ], "proteinEffect": { "hgvs": "NP_112224.1:p.Gln959Ter", "hgvsWellDefined": "NP_112224.1:p.Gln959_Ala1849delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038518" }, { "coordinates": [ { "allele": "A", "end": 135, "endIntronDirection": "+", "endIntronOffset": 7739, "referenceAllele": "G", "start": 135, "startIntronDirection": "+", "startIntronOffset": 7738 } ], "hgvs": [ "NR_120539.1:n.135+7739G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS055416" }, { "coordinates": [ { "allele": "T", "end": 3011, "referenceAllele": "C", "start": 3010 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_005253154.3:c.2875C>T" ], "proteinEffect": { "hgvs": "XP_005253211.1:p.Gln959Ter", "hgvsWellDefined": "XP_005253211.1:p.Gln959_Ala1881delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060173" }, { "coordinates": [ { "allele": "T", "end": 2882, "referenceAllele": "C", "start": 2881 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_005253155.3:c.2746C>T" ], "proteinEffect": { "hgvs": "XP_005253212.1:p.Gln916Ter", "hgvsWellDefined": "XP_005253212.1:p.Gln916_Ala1838delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060174" }, { "coordinates": [ { "allele": "T", "end": 2897, "referenceAllele": "C", "start": 2896 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_011520394.1:c.2761C>T" ], "proteinEffect": { "hgvs": "XP_011518696.1:p.Gln921Ter", "hgvsWellDefined": "XP_011518696.1:p.Gln921_Ala1843delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087562" }, { "coordinates": [ { "allele": "T", "end": 3012, "referenceAllele": "C", "start": 3011 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_011520395.1:c.2875C>T" ], "proteinEffect": { "hgvs": "XP_011518697.1:p.Gln959Ter", "hgvsWellDefined": "XP_011518697.1:p.Gln959_Met1267delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProValIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087563" }, { "coordinates": [ { "allele": "T", "end": 3012, "referenceAllele": "C", "start": 3011 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_011520396.1:c.2875C>T" ], "proteinEffect": { "hgvs": "XP_011518698.1:p.Gln959Ter", "hgvsWellDefined": "XP_011518698.1:p.Gln959_Ala1159delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerProGluIleAspLysAsnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087564" }, { "coordinates": [ { "allele": "T", "end": 3013, "referenceAllele": "C", "start": 3012 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_005253154.5:c.2875C>T" ], "proteinEffect": { "hgvs": "XP_005253211.1:p.Gln959Ter", "hgvsWellDefined": "XP_005253211.1:p.Gln959_Ala1881delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533904" }, { "coordinates": [ { "allele": "T", "end": 2884, "referenceAllele": "C", "start": 2883 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_005253155.5:c.2746C>T" ], "proteinEffect": { "hgvs": "XP_005253212.1:p.Gln916Ter", "hgvsWellDefined": "XP_005253212.1:p.Gln916_Ala1838delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533905" }, { "coordinates": [ { "allele": "T", "end": 2899, "referenceAllele": "C", "start": 2898 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_011520394.3:c.2761C>T" ], "proteinEffect": { "hgvs": "XP_011518696.1:p.Gln921Ter", "hgvsWellDefined": "XP_011518696.1:p.Gln921_Ala1843delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545709" }, { "coordinates": [ { "allele": "T", "end": 3013, "referenceAllele": "C", "start": 3012 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_011520395.3:c.2875C>T" ], "proteinEffect": { "hgvs": "XP_011518697.1:p.Gln959Ter", "hgvsWellDefined": "XP_011518697.1:p.Gln959_Met1267delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProValIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545710" }, { "coordinates": [ { "allele": "T", "end": 3013, "referenceAllele": "C", "start": 3012 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_011520396.3:c.2875C>T" ], "proteinEffect": { "hgvs": "XP_011518698.1:p.Gln959Ter", "hgvsWellDefined": "XP_011518698.1:p.Gln959_Ala1159delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerProGluIleAspLysAsnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545711" }, { "coordinates": [ { "allele": "T", "end": 4357, "referenceAllele": "C", "start": 4356 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_017018372.2:c.2737C>T" ], "proteinEffect": { "hgvs": "XP_016873861.1:p.Gln913Ter", "hgvsWellDefined": "XP_016873861.1:p.Gln913_Ala1835delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570314" }, { "coordinates": [ { "allele": "T", "end": 2924, "referenceAllele": "C", "start": 2923 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_017018373.2:c.2737C>T" ], "proteinEffect": { "hgvs": "XP_016873862.1:p.Gln913Ter", "hgvsWellDefined": "XP_016873862.1:p.Gln913_Ala1835delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570315" }, { "coordinates": [ { "allele": "T", "end": 2884, "referenceAllele": "C", "start": 2883 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_017018374.2:c.2746C>T" ], "proteinEffect": { "hgvs": "XP_016873863.1:p.Gln916Ter", "hgvsWellDefined": "XP_016873863.1:p.Gln916_Ala1806delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570316" }, { "coordinates": [ { "allele": "T", "end": 3013, "referenceAllele": "C", "start": 3012 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_017018375.2:c.2875C>T" ], "proteinEffect": { "hgvs": "XP_016873864.1:p.Gln959Ter", "hgvsWellDefined": "XP_016873864.1:p.Gln959_Ala1802delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570317" }, { "coordinates": [ { "allele": "T", "end": 3013, "referenceAllele": "C", "start": 3012 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_017018376.2:c.2875C>T" ], "proteinEffect": { "hgvs": "XP_016873865.1:p.Gln959Ter", "hgvsWellDefined": "XP_016873865.1:p.Gln959_Met1267delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProValIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570318" }, { "coordinates": [ { "allele": "T", "end": 3013, "referenceAllele": "C", "start": 3012 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_017018377.2:c.2875C>T" ], "proteinEffect": { "hgvs": "XP_016873866.1:p.Gln959Ter", "hgvsWellDefined": "XP_016873866.1:p.Gln959_Ser1105delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrGlyThrThrLeuLysAlaSerIleAlaLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570319" }, { "coordinates": [ { "allele": "T", "end": 3013, "referenceAllele": "C", "start": 3012 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XR_001747994.2:n.3013C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596065" }, { "@id": "http://reg.genome.network/allele/PA2829110546", "coordinates": [ { "allele": "T", "end": 3025, "referenceAllele": "C", "start": 3024 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "NM_001386339.1:c.2875C>T" ], "proteinEffect": { "hgvs": "NP_001373268.1:p.Gln959Ter", "hgvsWellDefined": "NP_001373268.1:p.Gln959_Ala1881delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS724496" }, { "@id": "http://reg.genome.network/allele/PA2829111361", "coordinates": [ { "allele": "T", "end": 2896, "referenceAllele": "C", "start": 2895 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "NM_001386342.1:c.2746C>T" ], "proteinEffect": { "hgvs": "NP_001373271.1:p.Gln916Ter", "hgvsWellDefined": "NP_001373271.1:p.Gln916_Ala1806delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS724497" }, { "@id": "http://reg.genome.network/allele/PA115864", "coordinates": [ { "allele": "T", "end": 3025, "referenceAllele": "C", "start": 3024 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "NM_030962.4:c.2875C>T" ], "proteinEffect": { "hgvs": "NP_112224.1:p.Gln959Ter", "hgvsWellDefined": "NP_112224.1:p.Gln959_Ala1849delinsAsnGlnLeuGlnGlnAsnMetGlnGluGlyLeuGlnIleThrSerAlaSerPheGlnLeuIleLysValAlaPheAspGluGluValSerProGluValValGluIlePheLysLysGlnLeuMetLysPheArgTyrProGlnSerIlePheSerThrPheAlaPheAlaAlaGlyGlnThrThrProGlnIleIleLeuProLysGlnLysGluLysAsnThrSerPheArgThrPheSerLysThrIleValLysGlyAlaLysArgAlaGlyLysMetThrIleGlyArgGlnTyrLeuLeuLysLysLysThrGlyThrIleValGluGluArgValAsnArgProGlyTrpAsnGluAspAspAspValSerValSerAspGluSerGluLeuProThrSerThrThrLeuLysAlaSerGluLysSerThrMetGluGlnLeuValGluLysAlaCysPheArgAspTyrGlnArgLeuGlyLeuGlyThrIleSerGlySerSerSerArgSerArgProGluTyrPheArgIleThrAlaSerAsnArgMetTyrSerLeuCysArgSerTyrProGlyLeuLeuValValProGlnAlaValGlnAspSerSerLeuProArgValAlaArgCysTyrArgHisAsnArgLeuProValValCysTrpLysAsnSerArgSerGlyThrLeuLeuLeuArgSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728747", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256190.13:c.2875C>T" }, "RefSeq": { "hgvs": "NM_030962.4:c.2875C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256190.8:p.Gln959Ter" }, "RefSeq": { "hgvs": "NP_112224.1:p.Gln959Ter" } } } } ], "type": "nucleotide" }