{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16609558", "communityStandardTitle": [ "NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5477384", "active": true, "id": "COSM5477384" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=389218[alleleid]", "alleleId": 389218, "preferredName": "NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/402258", "RCV": [ "RCV000454299", "RCV001727726" ], "variationId": 402258 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.109445771G>A?assembly=hg19", "id": "chr1:g.109445771G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.108903149G>A?assembly=hg38", "id": "chr1:g.108903149G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1060499797", "rs": 1060499797 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 108903149, "referenceAllele": "G", "start": 108903148 } ], "hgvs": [ "NC_000001.11:g.108903149G>A", "CM000663.2:g.108903149G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 109445771, "referenceAllele": "G", "start": 109445770 } ], "hgvs": [ "NC_000001.10:g.109445771G>A", "CM000663.1:g.109445771G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 109247294, "referenceAllele": "G", "start": 109247293 } ], "hgvs": [ "NC_000001.9:g.109247294G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 31169, "referenceAllele": "G", "start": 31168 } ], "hgvs": [ "NG_028108.1:g.31169G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004076" }, { "coordinates": [ { "allele": "A", "end": 32800, "referenceAllele": "G", "start": 32799 } ], "hgvs": [ "NG_028108.2:g.32800G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616281" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1968, "endIntronDirection": "-", "endIntronOffset": 20900, "referenceAllele": "C", "start": 1968, "startIntronDirection": "-", "startIntronOffset": 20901 } ], "gene": "http://reg.genome.network/gene/GN029675", "geneNCBI_id": 23155, "geneSymbol": "CLCC1", "hgvs": [ "ENST00000690509.1:c.*46-20901C>T" ], "proteinEffect": { "hgvs": "ENSP00000510142.1:n.*46-20901C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832732" }, { "coordinates": [ { "allele": "A", "end": 1469, "referenceAllele": "G", "start": 1468 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000264126.9:c.977G>A" ], "proteinEffect": { "hgvs": "ENSP00000264126.3:p.Trp326Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS755867" }, { "coordinates": [ { "allele": "A", "end": 1679, "referenceAllele": "G", "start": 1678 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000446797.2:c.977G>A" ], "proteinEffect": { "hgvs": "ENSP00000392138.2:p.Trp326Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS756096" }, { "coordinates": [ { "allele": "A", "end": 1473, "referenceAllele": "G", "start": 1472 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000642355.1:c.977G>A" ], "proteinEffect": { "hgvs": "ENSP00000496104.1:p.Trp326Ter", "hgvsWellDefined": "ENSP00000496104.1:p.Trp326_His684delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766696" }, { "coordinates": [ { "allele": "A", "end": 66, "referenceAllele": "G", "start": 65 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000643643.1:c.66G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767389" }, { "coordinates": [ { "allele": "A", "end": 1286, "referenceAllele": "G", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000645164.2:c.977G>A" ], "proteinEffect": { "hgvs": "ENSP00000496756.2:p.Trp326Ter", "hgvsWellDefined": "ENSP00000496756.2:p.Trp326_His684delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768205" }, { "coordinates": [ { "allele": "A", "end": 499, "referenceAllele": "G", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000645255.1:c.499G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768249" }, { "coordinates": [ { "allele": "A", "end": 1147, "referenceAllele": "G", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000674700.1:c.920G>A" ], "proteinEffect": { "hgvs": "ENSP00000501743.1:p.Trp307Ter", "hgvsWellDefined": "ENSP00000501743.1:p.Trp307_Arg519delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysArgIleGlnIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774627" }, { "coordinates": [ { "allele": "A", "end": 1157, "referenceAllele": "G", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000674731.1:c.920G>A" ], "proteinEffect": { "hgvs": "ENSP00000502401.1:p.Trp307Ter", "hgvsWellDefined": "ENSP00000502401.1:p.Trp307_Gln384delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyThrGluLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774654" }, { "coordinates": [ { "allele": "A", "end": 1323, "referenceAllele": "G", "start": 1322 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000674914.1:c.1028G>A" ], "proteinEffect": { "hgvs": "ENSP00000501579.1:p.Trp343Ter", "hgvsWellDefined": "ENSP00000501579.1:p.Trp343_His701delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774802" }, { "coordinates": [ { "allele": "A", "end": 1319, "referenceAllele": "G", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000675086.1:c.977G>A" ], "proteinEffect": { "hgvs": "ENSP00000502476.1:p.Trp326Ter", "hgvsWellDefined": "ENSP00000502476.1:p.Trp326_His625delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774955" }, { "coordinates": [ { "allele": "A", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000675087.1:c.1028G>A" ], "proteinEffect": { "hgvs": "ENSP00000502020.1:p.Trp343Ter", "hgvsWellDefined": "ENSP00000502020.1:p.Trp343_His701delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS068696" }, { "coordinates": [ { "allele": "A", "end": 1750, "referenceAllele": "G", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_011541301.1:c.977G>A" ], "proteinEffect": { "hgvs": "XP_011539603.1:p.Trp326Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS108243" }, { "coordinates": [ { "allele": "A", "end": 1469, "referenceAllele": "G", "start": 1468 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_011541302.1:c.977G>A" ], "proteinEffect": { "hgvs": "XP_011539604.1:p.Trp326Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS108244" }, { "coordinates": [ { "allele": "A", "end": 2168, "referenceAllele": "G", "start": 2167 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_011541303.1:c.977G>A" ], "proteinEffect": { "hgvs": "XP_011539605.1:p.Trp326Ter", "hgvsWellDefined": "XP_011539605.1:p.Trp326_Ile458delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValLeuLysAsnGlnHisPheAsnValLeuIleMetArgIleHisSerMetHisLeuValGlnValLeuLysIleValGlnTyrThrLysLysAspIlePheLysGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108245" }, { "@id": "http://reg.genome.network/allele/PA2827067923", "coordinates": [ { "allele": "A", "end": 1241, "referenceAllele": "G", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "NM_001321038.1:c.977G>A" ], "proteinEffect": { "hgvs": "NP_001307967.1:p.Trp326Ter", "hgvsWellDefined": "NP_001307967.1:p.Trp326_His684delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513987" }, { "@id": "http://reg.genome.network/allele/PA2827068200", "coordinates": [ { "allele": "A", "end": 1473, "referenceAllele": "G", "start": 1472 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "NM_001321039.1:c.977G>A" ], "proteinEffect": { "hgvs": "NP_001307968.1:p.Trp326Ter", "hgvsWellDefined": "NP_001307968.1:p.Trp326_His684delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513988" }, { "coordinates": [ { "allele": "A", "end": 1862, "referenceAllele": "G", "start": 1861 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_006710589.3:c.920G>A" ], "proteinEffect": { "hgvs": "XP_006710652.1:p.Trp307Ter", "hgvsWellDefined": "XP_006710652.1:p.Trp307_His665delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537823" }, { "coordinates": [ { "allele": "A", "end": 1750, "referenceAllele": "G", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_011541301.2:c.977G>A" ], "proteinEffect": { "hgvs": "XP_011539603.1:p.Trp326Ter", "hgvsWellDefined": "XP_011539603.1:p.Trp326_His684delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554383" }, { "coordinates": [ { "allele": "A", "end": 2410, "referenceAllele": "G", "start": 2409 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_011541302.3:c.977G>A" ], "proteinEffect": { "hgvs": "XP_011539604.1:p.Trp326Ter", "hgvsWellDefined": "XP_011539604.1:p.Trp326_His684delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554384" }, { "coordinates": [ { "allele": "A", "end": 2166, "referenceAllele": "G", "start": 2165 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_011541303.3:c.977G>A" ], "proteinEffect": { "hgvs": "XP_011539605.1:p.Trp326Ter", "hgvsWellDefined": "XP_011539605.1:p.Trp326_Ile458delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValLeuLysAsnGlnHisPheAsnValLeuIleMetArgIleHisSerMetHisLeuValGlnValLeuLysIleValGlnTyrThrLysLysAspIlePheLysGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554385" }, { "coordinates": [ { "allele": "A", "end": 2316, "referenceAllele": "G", "start": 2315 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_017001097.2:c.977G>A" ], "proteinEffect": { "hgvs": "XP_016856586.1:p.Trp326Ter", "hgvsWellDefined": "XP_016856586.1:p.Trp326_His684delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557332" }, { "coordinates": [ { "allele": "A", "end": 2084, "referenceAllele": "G", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_017001098.2:c.977G>A" ], "proteinEffect": { "hgvs": "XP_016856587.1:p.Trp326Ter", "hgvsWellDefined": "XP_016856587.1:p.Trp326_His684delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557333" }, { "@id": "http://reg.genome.network/allele/PA645388507", "coordinates": [ { "allele": "A", "end": 1469, "referenceAllele": "G", "start": 1468 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "NM_013296.5:c.977G>A" ], "proteinEffect": { "hgvs": "NP_037428.3:p.Trp326Ter", "hgvsWellDefined": "NP_037428.3:p.Trp326_His684delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668105", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264126.9:c.977G>A" }, "RefSeq": { "hgvs": "NM_013296.5:c.977G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264126.3:p.Trp326Ter" }, "RefSeq": { "hgvs": "NP_037428.3:p.Trp326Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827067923", "coordinates": [ { "allele": "A", "end": 1237, "referenceAllele": "G", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "NM_001321038.2:c.977G>A" ], "proteinEffect": { "hgvs": "NP_001307967.1:p.Trp326Ter", "hgvsWellDefined": "NP_001307967.1:p.Trp326_His684delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685157" }, { "@id": "http://reg.genome.network/allele/PA2827068200", "coordinates": [ { "allele": "A", "end": 1469, "referenceAllele": "G", "start": 1468 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "NM_001321039.2:c.977G>A" ], "proteinEffect": { "hgvs": "NP_001307968.1:p.Trp326Ter", "hgvsWellDefined": "NP_001307968.1:p.Trp326_His684delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685158" }, { "@id": "http://reg.genome.network/allele/PA2827068200", "coordinates": [ { "allele": "A", "end": 1469, "referenceAllele": "G", "start": 1468 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "NM_001321039.3:c.977G>A" ], "proteinEffect": { "hgvs": "NP_001307968.1:p.Trp326Ter", "hgvsWellDefined": "NP_001307968.1:p.Trp326_His684delinsSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717891" } ], "type": "nucleotide" }