{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA115865", "communityStandardTitle": [ "NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17950[alleleid]", "alleleId": 17950, "preferredName": "NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2911", "RCV": [ "RCV000003045", "RCV001045497" ], "variationId": 2911 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.9853837G>A?assembly=hg19", "id": "chr11:g.9853837G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.9832290G>A?assembly=hg38", "id": "chr11:g.9832290G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/120074138", "rs": 120074138 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-9853837-G-A?dataset=gnomad_r2_1", "id": "11-9853837-G-A", "variant": "11:9853837 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-9832290-G-A?dataset=gnomad_r4", "id": "11-9832290-G-A", "variant": "11:9832290 G / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 9832290, "referenceAllele": "G", "start": 9832289 } ], "hgvs": [ "NC_000011.10:g.9832290G>A", "CM000673.2:g.9832290G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 9853837, "referenceAllele": "G", "start": 9853836 } ], "hgvs": [ "NC_000011.9:g.9853837G>A", "CM000673.1:g.9853837G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 9810413, "referenceAllele": "G", "start": 9810412 } ], "hgvs": [ "NC_000011.8:g.9810413G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 466918, "referenceAllele": "C", "start": 466917 } ], "hgvs": [ "NG_008074.1:g.466918C>T", "LRG_267:g.466918C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000819" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2290, "referenceAllele": "C", "start": 2289 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000530741.2:c.2290C>T" ], "proteinEffect": { "hgvs": "ENSP00000432643.2:p.Arg764Ter", "hgvsWellDefined": "ENSP00000432643.2:p.Arg764_Gln1002del" }, "referenceSequence": "http://reg.genome.network/refseq/RS825792" }, { "coordinates": [ { "allele": "T", "end": 3736, "referenceAllele": "C", "start": 3735 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000675281.2:c.3586C>T" ], "proteinEffect": { "hgvs": "ENSP00000502491.1:p.Arg1196Ter", "hgvsWellDefined": "ENSP00000502491.1:p.Arg1196_Ala1874delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProValHisGlyTyrArgAspLysCysPheThrGlnSerAsnProLysSerSerAlaLysGlyArgValHisAsnGlnGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826906" }, { "coordinates": [ { "allele": "T", "end": 3724, "referenceAllele": "C", "start": 3723 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000676324.2:c.3586C>T" ], "proteinEffect": { "hgvs": "ENSP00000502578.1:p.Arg1196Ter", "hgvsWellDefined": "ENSP00000502578.1:p.Arg1196_Met1267delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProValIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826924" }, { "coordinates": [ { "allele": "T", "end": 3610, "referenceAllele": "C", "start": 3609 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000676387.2:c.3472C>T" ], "proteinEffect": { "hgvs": "ENSP00000502779.1:p.Arg1158Ter", "hgvsWellDefined": "ENSP00000502779.1:p.Arg1158_Ala1868delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyValHisGlyTyrArgAspLysCysPheThrGlnSerAsnProLysSerSerAlaLysGlyArgValHisAsnGlnGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826925" }, { "coordinates": [ { "allele": "T", "end": 3193, "referenceAllele": "C", "start": 3192 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000688344.1:c.3193C>T" ], "proteinEffect": { "hgvs": "ENSP00000509987.1:p.Arg1065Ter", "hgvsWellDefined": "ENSP00000509987.1:p.Arg1065_Ala1718delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831581" }, { "coordinates": [ { "allele": "T", "end": 3645, "referenceAllele": "C", "start": 3644 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000689128.1:c.3586C>T" ], "proteinEffect": { "hgvs": "ENSP00000509587.1:p.Arg1196Ter", "hgvsWellDefined": "ENSP00000509587.1:p.Arg1196_Ala1881delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832008" }, { "coordinates": [ { "allele": "T", "end": 3589, "referenceAllele": "C", "start": 3588 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000689258.1:c.3448C>T" ], "proteinEffect": { "hgvs": "ENSP00000510475.1:p.Arg1150Ter", "hgvsWellDefined": "ENSP00000510475.1:p.Arg1150_Ala1828delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProValHisGlyTyrArgAspLysCysPheThrGlnSerAsnProLysSerSerAlaLysGlyArgValHisAsnGlnGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832077" }, { "coordinates": [ { "allele": "T", "end": 757, "referenceAllele": "C", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000689356.1:n.757C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832126" }, { "coordinates": [ { "allele": "T", "end": 2290, "referenceAllele": "C", "start": 2289 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000689597.1:c.2290C>T" ], "proteinEffect": { "hgvs": "ENSP00000510781.1:p.Arg764Ter", "hgvsWellDefined": "ENSP00000510781.1:p.Arg764_Arg1312delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832254" }, { "coordinates": [ { "allele": "T", "end": 2480, "referenceAllele": "C", "start": 2479 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000689674.1:c.2480C>T" ], "proteinEffect": { "hgvs": "ENSP00000510723.1:n.2480C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832294" }, { "coordinates": [ { "allele": "T", "end": 3738, "referenceAllele": "C", "start": 3737 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000689940.1:c.3580C>T" ], "proteinEffect": { "hgvs": "ENSP00000508452.1:p.Arg1194Ter", "hgvsWellDefined": "ENSP00000508452.1:p.Arg1194_Ala1847delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832455" }, { "coordinates": [ { "allele": "T", "end": 2385, "referenceAllele": "C", "start": 2384 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000690003.1:c.2385C>T" ], "proteinEffect": { "hgvs": "ENSP00000508748.1:n.2385C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832487" }, { "coordinates": [ { "allele": "T", "end": 3609, "referenceAllele": "C", "start": 3608 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000692716.1:c.3457C>T" ], "proteinEffect": { "hgvs": "ENSP00000509545.1:p.Arg1153Ter", "hgvsWellDefined": "ENSP00000509545.1:p.Arg1153_Ala1806delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833846" }, { "coordinates": [ { "allele": "T", "end": 2415, "referenceAllele": "C", "start": 2414 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000693181.1:c.2415C>T" ], "proteinEffect": { "hgvs": "ENSP00000510179.1:n.2415C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS834103" }, { "coordinates": [ { "allele": "T", "end": 3736, "referenceAllele": "C", "start": 3735 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000256190.13:c.3586C>T" ], "proteinEffect": { "hgvs": "ENSP00000256190.8:p.Arg1196Ter", "hgvsWellDefined": "ENSP00000256190.8:p.Arg1196_Ala1849delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741753", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256190.13:c.3586C>T" }, "RefSeq": { "hgvs": "NM_030962.4:c.3586C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256190.8:p.Arg1196Ter" }, "RefSeq": { "hgvs": "NP_112224.1:p.Arg1196Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3736, "referenceAllele": "C", "start": 3735 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000675281.1:c.3586C>T" ], "proteinEffect": { "hgvs": "ENSP00000502491.1:p.Arg1196Ter", "hgvsWellDefined": "ENSP00000502491.1:p.Arg1196_Ala1874delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProValHisGlyTyrArgAspLysCysPheThrGlnSerAsnProLysSerSerAlaLysGlyArgValHisAsnGlnGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775121" }, { "coordinates": [ { "allele": "T", "end": 3724, "referenceAllele": "C", "start": 3723 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000676324.1:c.3586C>T" ], "proteinEffect": { "hgvs": "ENSP00000502578.1:p.Arg1196Ter", "hgvsWellDefined": "ENSP00000502578.1:p.Arg1196_Met1267delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProValIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776020" }, { "coordinates": [ { "allele": "T", "end": 3610, "referenceAllele": "C", "start": 3609 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000676387.1:c.3472C>T" ], "proteinEffect": { "hgvs": "ENSP00000502779.1:p.Arg1158Ter", "hgvsWellDefined": "ENSP00000502779.1:p.Arg1158_Ala1868delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyValHisGlyTyrArgAspLysCysPheThrGlnSerAsnProLysSerSerAlaLysGlyArgValHisAsnGlnGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776076" }, { "coordinates": [ { "allele": "T", "end": 3724, "referenceAllele": "C", "start": 3723 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000256190.12:c.3586C>T" ], "proteinEffect": { "hgvs": "ENSP00000256190.8:p.Arg1196Ter", "hgvsWellDefined": "ENSP00000256190.8:p.Arg1196_Ala1849delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250151" }, { "coordinates": [ { "allele": "T", "end": 237, "referenceAllele": "C", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000530741.1:c.237C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS355945" }, { "coordinates": [ { "allele": "T", "end": 3445, "referenceAllele": "C", "start": 3444 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "ENST00000617179.4:c.3445C>T" ], "proteinEffect": { "hgvs": "ENSP00000482806.1:p.Arg1149Ter", "hgvsWellDefined": "ENSP00000482806.1:p.Arg1149_Ala1802delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403370" }, { "@id": "http://reg.genome.network/allele/PA115867", "coordinates": [ { "allele": "T", "end": 3724, "referenceAllele": "C", "start": 3723 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "NM_030962.3:c.3586C>T", "LRG_267t1:c.3586C>T" ], "proteinEffect": { "hgvs": "NP_112224.1:p.Arg1196Ter", "hgvsWellDefined": "NP_112224.1:p.Arg1196_Ala1849delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038518" }, { "coordinates": [ { "allele": "T", "end": 3722, "referenceAllele": "C", "start": 3721 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_005253154.3:c.3586C>T" ], "proteinEffect": { "hgvs": "XP_005253211.1:p.Arg1196Ter", "hgvsWellDefined": "XP_005253211.1:p.Arg1196_Ala1881delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060173" }, { "coordinates": [ { "allele": "T", "end": 3593, "referenceAllele": "C", "start": 3592 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_005253155.3:c.3457C>T" ], "proteinEffect": { "hgvs": "XP_005253212.1:p.Arg1153Ter", "hgvsWellDefined": "XP_005253212.1:p.Arg1153_Ala1838delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060174" }, { "coordinates": [ { "allele": "T", "end": 3608, "referenceAllele": "C", "start": 3607 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_011520394.1:c.3472C>T" ], "proteinEffect": { "hgvs": "XP_011518696.1:p.Arg1158Ter", "hgvsWellDefined": "XP_011518696.1:p.Arg1158_Ala1843delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087562" }, { "coordinates": [ { "allele": "T", "end": 3723, "referenceAllele": "C", "start": 3722 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_011520395.1:c.3586C>T" ], "proteinEffect": { "hgvs": "XP_011518697.1:p.Arg1196Ter", "hgvsWellDefined": "XP_011518697.1:p.Arg1196_Met1267delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProValIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087563" }, { "coordinates": [ { "allele": "T", "end": 3724, "referenceAllele": "C", "start": 3723 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_005253154.5:c.3586C>T" ], "proteinEffect": { "hgvs": "XP_005253211.1:p.Arg1196Ter", "hgvsWellDefined": "XP_005253211.1:p.Arg1196_Ala1881delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533904" }, { "coordinates": [ { "allele": "T", "end": 3595, "referenceAllele": "C", "start": 3594 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_005253155.5:c.3457C>T" ], "proteinEffect": { "hgvs": "XP_005253212.1:p.Arg1153Ter", "hgvsWellDefined": "XP_005253212.1:p.Arg1153_Ala1838delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533905" }, { "coordinates": [ { "allele": "T", "end": 3610, "referenceAllele": "C", "start": 3609 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_011520394.3:c.3472C>T" ], "proteinEffect": { "hgvs": "XP_011518696.1:p.Arg1158Ter", "hgvsWellDefined": "XP_011518696.1:p.Arg1158_Ala1843delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545709" }, { "coordinates": [ { "allele": "T", "end": 3724, "referenceAllele": "C", "start": 3723 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_011520395.3:c.3586C>T" ], "proteinEffect": { "hgvs": "XP_011518697.1:p.Arg1196Ter", "hgvsWellDefined": "XP_011518697.1:p.Arg1196_Met1267delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProValIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545710" }, { "coordinates": [ { "allele": "T", "end": 5068, "referenceAllele": "C", "start": 5067 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_017018372.2:c.3448C>T" ], "proteinEffect": { "hgvs": "XP_016873861.1:p.Arg1150Ter", "hgvsWellDefined": "XP_016873861.1:p.Arg1150_Ala1835delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570314" }, { "coordinates": [ { "allele": "T", "end": 3635, "referenceAllele": "C", "start": 3634 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_017018373.2:c.3448C>T" ], "proteinEffect": { "hgvs": "XP_016873862.1:p.Arg1150Ter", "hgvsWellDefined": "XP_016873862.1:p.Arg1150_Ala1835delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570315" }, { "coordinates": [ { "allele": "T", "end": 3595, "referenceAllele": "C", "start": 3594 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_017018374.2:c.3457C>T" ], "proteinEffect": { "hgvs": "XP_016873863.1:p.Arg1153Ter", "hgvsWellDefined": "XP_016873863.1:p.Arg1153_Ala1806delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570316" }, { "coordinates": [ { "allele": "T", "end": 3724, "referenceAllele": "C", "start": 3723 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_017018375.2:c.3586C>T" ], "proteinEffect": { "hgvs": "XP_016873864.1:p.Arg1196Ter", "hgvsWellDefined": "XP_016873864.1:p.Arg1196_Ala1802delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570317" }, { "coordinates": [ { "allele": "T", "end": 3724, "referenceAllele": "C", "start": 3723 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XM_017018376.2:c.3586C>T" ], "proteinEffect": { "hgvs": "XP_016873865.1:p.Arg1196Ter", "hgvsWellDefined": "XP_016873865.1:p.Arg1196_Met1267delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProValIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570318" }, { "coordinates": [ { "allele": "T", "end": 3724, "referenceAllele": "C", "start": 3723 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "XR_001747994.2:n.3724C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596065" }, { "@id": "http://reg.genome.network/allele/PA2829110689", "coordinates": [ { "allele": "T", "end": 3736, "referenceAllele": "C", "start": 3735 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "NM_001386339.1:c.3586C>T" ], "proteinEffect": { "hgvs": "NP_001373268.1:p.Arg1196Ter", "hgvsWellDefined": "NP_001373268.1:p.Arg1196_Ala1881delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyThrGluArgArgThrSerArgMetSerThrValLeuLysGlnValValProGlyHisLeuAspValAsnProSerAsnSerPheAlaGlnGlyGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS724496" }, { "@id": "http://reg.genome.network/allele/PA2829111483", "coordinates": [ { "allele": "T", "end": 3607, "referenceAllele": "C", "start": 3606 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "NM_001386342.1:c.3457C>T" ], "proteinEffect": { "hgvs": "NP_001373271.1:p.Arg1153Ter", "hgvsWellDefined": "NP_001373271.1:p.Arg1153_Ala1806delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS724497" }, { "@id": "http://reg.genome.network/allele/PA115867", "coordinates": [ { "allele": "T", "end": 3736, "referenceAllele": "C", "start": 3735 } ], "gene": "http://reg.genome.network/gene/GN002135", "geneNCBI_id": 81846, "geneSymbol": "SBF2", "hgvs": [ "NM_030962.4:c.3586C>T" ], "proteinEffect": { "hgvs": "NP_112224.1:p.Arg1196Ter", "hgvsWellDefined": "NP_112224.1:p.Arg1196_Ala1849delinsSerGlyGlyPheHisGlyLysGlyValValGlyLeuPheLysSerGlnAsnSerProGlnAlaAlaProThrSerSerLeuGluSerSerSerSerIleGluGlnGluLysTyrLeuGlnAlaLeuLeuAsnAlaValSerValHisGlnLysLeuArgGlyAsnSerThrLeuThrValArgProAlaPheAlaLeuSerProGlyValTrpAlaSerLeuArgSerSerThrArgLeuIleSerSerProThrSerPheIleAspValGlyAlaArgLeuAlaGlyLysAspHisSerAlaSerPheSerAsnSerSerTyrLeuGlnAsnGlnLeuLeuLysArgGlnAlaAlaLeuTyrIlePheGlyGluLysSerGlnLeuArgAsnPheLysValGluPheAlaLeuAsnCysGluPheValProValGluPheHisGluIleArgGlnValLysAlaSerPheLysLysLeuMetArgAlaCysIleProSerThrIleProThrAspSerGluValThrPheLeuLysAlaLeuGlyAspSerGluTrpPheProGlnLeuHisArgIleMetGlnLeuAlaValValValSerGluValLeuGluAsnGlySerSerValLeuValCysLeuGluGluGlyTrpAspIleThrAlaGlnValThrSerLeuValGlnLeuLeuSerAspProPheTyrArgThrLeuGluGlyPheGlnMetLeuValGluLysGluTrpLeuSerPheGlyHisLysPheSerGlnArgSerSerLeuThrLeuAsnCysGlnGlySerGlyPheAlaProValPheLeuGlnPheLeuAspCysValHisGlnValHisAsnGlnTyrProThrGluPheGluPheAsnLeuTyrTyrLeuLysPheLeuAlaPheHisTyrValSerAsnArgPheLysThrPheLeuLeuAspSerAspTyrGluArgLeuGluHisGlyThrLeuPheAspAspLysGlyGluLysHisAlaLysLysGlyValCysIleTrpGluCysIleAspArgMetHisLysArgSerProIlePhePheAsnTyrLeuTyrSerProLeuGluIleGluAlaLeuLysProAsnValAsnValSerSerLeuLysLysTrpAspTyrTyrIleGluGluThrLeuSerThrGlyProSerTyrAspTrpMetMetLeuThrProLysHisPheProSerGluAspSerAspLeuAlaGlyGluAlaGlyProArgSerGlnArgArgThrValTrpProCysTyrAspAspValSerCysThrGlnProAspAlaLeuThrSerLeuPheSerGluIleGluLysLeuGluHisLysLeuAsnGlnAlaProGluLysTrpGlnGlnLeuTrpGluArgValThrValAspLeuLysGluGluProArgThrAspArgSerGlnArgHisLeuSerArgSerProGlyIleValSerThrAsnLeuProSerTyrGlnLysArgSerLeuLeuHisLeuProAspSerSerMetGlyGluGluGlnAsnSerSerIleSerProSerAsnGlyValGluArgArgAlaAlaThrLeuTyrSerGlnTyrThrSerLysAsnAspGluAsnArgSerPheGluGlyThrLeuTyrLysArgGlyAlaLeuLeuLysGlyTrpLysProArgTrpPheValLeuAspValThrLysHisGlnLeuArgTyrTyrAspSerGlyGluAspThrSerCysLysGlyHisIleAspLeuAlaGluValGluMetValIleProAlaGlyProSerMetGlyAlaProLysHisThrSerAspLysAlaPhePheAspLeuLysThrSerLysArgValTyrAsnPheCysAlaGlnAspGlyGlnSerAlaGlnGlnTrpMetAspLysIleGlnSerCysIleSerAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728747", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256190.13:c.3586C>T" }, "RefSeq": { "hgvs": "NM_030962.4:c.3586C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256190.8:p.Arg1196Ter" }, "RefSeq": { "hgvs": "NP_112224.1:p.Arg1196Ter" } } } } ], "type": "nucleotide" }