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"gene": "http://reg.genome.network/gene/GN003413", "geneNCBI_id": 7957, "geneSymbol": "EPM2A", "hgvs": [ "NR_153398.1:n.114+572C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531861" }, { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN003413", "geneNCBI_id": 7957, "geneSymbol": "EPM2A", "hgvs": [ "XM_011536113.2:c.163C>T" ], "proteinEffect": { "hgvs": "XP_011534415.1:p.Gln55Ter", "hgvsWellDefined": "XP_011534415.1:p.Gln55_Thr272delinsGluProGlyLeuTrpLeuGlyGluValGluLeuAlaAlaGluGluAlaAlaGlnAspGlyAlaGluProGlyArgValAspThrPheTrpTyrLysPheLeuLysArgGluProGlyGlyGluLeuSerTrpGluGlyAsnGlyProHisHisAspArgCysCysThrTyrAsnGluAsnAsnLeuValAspGlyValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThrAsnGluMetLysHisThrThrAspPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSerArgIleLeuProAsnIleTrpLeuGlySerCysProArgGlnValGluHisValThrIleLysLeuLysHisGluLeuGlyIleThrAlaValMetAsnPheGlnThrGluTrpAspIleValGlnAsnSerSerGlyCysAsnArgTyrProGluProMetThrProAspThrMetIleLysLeuTyrArgGluGluGlyLeuAlaTyrIleTrpMetProThrProAspMetSerThrGluAspGluLysArgThrAlaAspMetCysCysSerGlyMetTrpGluGluThrAlaGluSerThrHisGlnThrTyrLeuThrPheProThrAsnGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552336" }, { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN003413", "geneNCBI_id": 7957, "geneSymbol": "EPM2A", "hgvs": [ "XM_024446550.1:c.163C>T" ], "proteinEffect": { "hgvs": "XP_024302318.1:p.Gln55Ter", "hgvsWellDefined": "XP_024302318.1:p.Gln55_Leu281delinsGluProGlyLeuTrpLeuGlyGluValGluLeuAlaAlaGluGluAlaAlaGlnAspGlyAlaGluProGlyArgValAspThrPheTrpTyrLysPheLeuLysArgGluProGlyGlyGluLeuSerTrpGluGlyAsnGlyProHisHisAspArgCysCysThrTyrAsnGluAsnAsnLeuValAspGlyValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThrAsnGluMetLysHisThrThrAspPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSerArgIleLeuProAsnIleTrpLeuGlySerCysProArgGlnValGluHisValThrIleLysLeuLysHisGluLeuGlyIleThrAlaValMetAsnPheGlnThrGluTrpAspIleValGlnAsnSerSerGlyCysAsnArgTyrProGluProMetThrProAspThrMetIleLysLeuTyrArgGluGluGlyLeuAlaTyrIleTrpMetProThrProAspMetSerThrGluAspGluLysArgThrAlaAspMetCysCysSerGlyMetTrpGluGluThrAlaGlyGlnIleLeuArgGlyGlyArgLysTrpThrLysThrAsnIleGlnLysGlyProMetLeuTrpIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580210" }, { "@id": "http://reg.genome.network/allele/PA645510150", "coordinates": [ { "allele": "T", "end": 185, "referenceAllele": "C", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN003413", "geneNCBI_id": 7957, "geneSymbol": "EPM2A", "hgvs": [ "NM_005670.4:c.163C>T" ], "proteinEffect": { "hgvs": "NP_005661.1:p.Gln55Ter", "hgvsWellDefined": "NP_005661.1:p.Gln55_Leu331delinsGluProGlyLeuTrpLeuGlyGluValGluLeuAlaAlaGluGluAlaAlaGlnAspGlyAlaGluProGlyArgValAspThrPheTrpTyrLysPheLeuLysArgGluProGlyGlyGluLeuSerTrpGluGlyAsnGlyProHisHisAspArgCysCysThrTyrAsnGluAsnAsnLeuValAspGlyValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThrAsnGluMetLysHisThrThrAspPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSerArgIleLeuProAsnIleTrpLeuGlySerCysProArgGlnValGluHisValThrIleLysLeuLysHisGluLeuGlyIleThrAlaValMetAsnPheGlnThrGluTrpAspIleValGlnAsnSerSerGlyCysAsnArgTyrProGluProMetThrProAspThrMetIleLysLeuTyrArgGluGluGlyLeuAlaTyrIleTrpMetProThrProAspMetSerThrGluGlyArgValGlnMetLeuProGlnAlaValCysLeuLeuHisAlaLeuLeuGluLysGlyHisIleValTyrValHisCysAsnAlaGlyValGlyArgSerThrAlaAlaValCysGlyTrpLeuGlnTyrValMetGlyTrpAsnLeuArgLysValGlnTyrPheLeuMetAlaLysArgProAlaValTyrIleAspGluGluAlaLeuAlaArgAlaGlnGluAspPhePheGlnLysPheGlyLysValArgSerSerValCysSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS667085", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367519.9:c.163C>T" }, "RefSeq": { "hgvs": "NM_005670.4:c.163C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356489.3:p.Gln55Ter" }, "RefSeq": { "hgvs": "NP_005661.1:p.Gln55Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825325333", "coordinates": [ { "allele": "T", "end": 185, "referenceAllele": "C", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN003413", "geneNCBI_id": 7957, "geneSymbol": "EPM2A", "hgvs": [ "NM_001018041.2:c.163C>T" ], "proteinEffect": { "hgvs": "NP_001018051.1:p.Gln55Ter", "hgvsWellDefined": "NP_001018051.1:p.Gln55_Leu317delinsGluProGlyLeuTrpLeuGlyGluValGluLeuAlaAlaGluGluAlaAlaGlnAspGlyAlaGluProGlyArgValAspThrPheTrpTyrLysPheLeuLysArgGluProGlyGlyGluLeuSerTrpGluGlyAsnGlyProHisHisAspArgCysCysThrTyrAsnGluAsnAsnLeuValAspGlyValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThrAsnGluMetLysHisThrThrAspPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSerArgIleLeuProAsnIleTrpLeuGlySerCysProArgGlnValGluHisValThrIleLysLeuLysHisGluLeuGlyIleThrAlaValMetAsnPheGlnThrGluTrpAspIleValGlnAsnSerSerGlyCysAsnArgTyrProGluProMetThrProAspThrMetIleLysLeuTyrArgGluGluGlyLeuAlaTyrIleTrpMetProThrProAspMetSerThrGluGlyArgValGlnMetLeuProGlnAlaValCysLeuLeuHisAlaLeuLeuGluLysGlyHisIleValTyrValHisCysAsnAlaGlyValGlyArgSerThrAlaAlaValCysGlyTrpLeuGlnTyrValMetGlyTrpAsnLeuArgLysValGlnTyrPheLeuMetAlaLysArgProAlaValTyrIleAspGluGluAlaAlaSerGlnAspThrPheProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675579" }, { "@id": "http://reg.genome.network/allele/PA2828058354", "coordinates": [ { "allele": "T", "end": 185, "referenceAllele": "C", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN003413", "geneNCBI_id": 7957, "geneSymbol": "EPM2A", "hgvs": [ "NM_001360057.2:c.163C>T" ], "proteinEffect": { "hgvs": "NP_001346986.1:p.Gln55Ter", "hgvsWellDefined": "NP_001346986.1:p.Gln55_His224delinsGluProGlyLeuTrpLeuGlyGluValGluLeuAlaAlaGluGluAlaAlaGlnAspGlyAlaGluProGlyArgValAspThrPheTrpTyrLysPheLeuLysArgGluProGlyGlyGluLeuSerTrpGluGlyAsnGlyProHisHisAspArgCysCysThrTyrAsnGluAsnAsnLeuValAspGlyValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThrAsnGluMetLysHisThrThrAspPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSerArgProSerThrAspAlaAlaProGlyGlyValProAlaAlaCysAlaAlaGlyGluGlyThrHisArgValArgAlaLeuGlnArgTrpGlyGlyProLeuHisArgGlyCysLeuArgLeuAlaProValCysAspGlyLeuGluSerGluGluGlyAlaValPheProHisGlyGlnGluAlaGlyCysLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690493" }, { "coordinates": [ { "allele": "T", "end": 116, "endIntronDirection": "+", "endIntronOffset": 572, "referenceAllele": "C", 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"http://reg.genome.network/refseq/RS691360" }, { "@id": "http://reg.genome.network/allele/PA2828284223", "coordinates": [ { "allele": "T", "end": 185, "referenceAllele": "C", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN003413", "geneNCBI_id": 7957, "geneSymbol": "EPM2A", "hgvs": [ "NM_001368130.1:c.163C>T" ], "proteinEffect": { "hgvs": "NP_001355059.1:p.Gln55Ter", "hgvsWellDefined": "NP_001355059.1:p.Gln55_Ser267delinsGluProGlyLeuTrpLeuGlyGluValGluLeuAlaAlaGluGluAlaAlaGlnAspGlyAlaGluProGlyArgValAspThrPheTrpTyrLysPheLeuLysArgGluProGlyGlyGluLeuSerTrpGluGlyAsnGlyProHisHisAspArgCysCysThrTyrAsnGluAsnAsnLeuValAspGlyValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThrAsnGluMetLysHisThrThrAspPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSerArgIleLeuProAsnIleTrpLeuGlySerCysProArgGlnValGluHisValThrIleLysLeuLysHisGluLeuGlyIleThrAlaValMetAsnPheGlnThrGluTrpAspIleValGlnAsnSerSerGlyCysAsnArgTyrProGluProMetThrProAspThrMetIleLysLeuTyrArgGluGluGlyLeuAlaTyrIleTrpMetProThrProAspMetSerThrGluGlyLysAspGlnAsnCysSerAlaSerLeuLeuTyrPheArgGluThrLeuAlaValCysLeuSerIleTyrAsnLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691361" }, { "coordinates": [ { "allele": "T", "end": 185, "referenceAllele": "C", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN003413", "geneNCBI_id": 7957, "geneSymbol": "EPM2A", "hgvs": [ "NM_001368131.1:c.-205C>T" ], "proteinEffect": { "hgvs": "NP_001355060.1:n.-205C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691362" }, { "coordinates": [ { "allele": "T", "end": 116, "endIntronDirection": "+", "endIntronOffset": 572, "referenceAllele": "C", "start": 116, "startIntronDirection": "+", "startIntronOffset": 571 } ], "gene": "http://reg.genome.network/gene/GN003413", "geneNCBI_id": 7957, "geneSymbol": "EPM2A", "hgvs": [ "NR_153398.2:n.116+572C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704950" } ], "type": "nucleotide" }