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"XP_016863228.1:p.Glu455_Asp748delinsSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562411" }, { "coordinates": [ { "allele": "T", "end": 2883, "referenceAllele": "G", "start": 2882 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_024453893.1:c.1363G>T" ], "proteinEffect": { "hgvs": "XP_024309661.1:p.Glu455Ter", "hgvsWellDefined": "XP_024309661.1:p.Glu455_Asp748delinsSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587265" }, { "coordinates": [ { "allele": "T", "end": 3108, "referenceAllele": "G", "start": 3107 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XR_001741141.1:n.3108G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591184" }, { "@id": "http://reg.genome.network/allele/PA2830309632", "coordinates": [ { "allele": "T", "end": 3089, "referenceAllele": "G", "start": 3088 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "NM_147127.5:c.3043G>T" ], "proteinEffect": { "hgvs": "NP_667338.3:p.Glu1015Ter", "hgvsWellDefined": "NP_667338.3:p.Glu1015_Asp1308delinsSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672229", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000344408.10:c.3043G>T" }, "RefSeq": { "hgvs": "NM_147127.5:c.3043G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000342144.5:p.Glu1015Ter" }, "RefSeq": { "hgvs": "NP_667338.3:p.Glu1015Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2580153673", "coordinates": [ { "allele": "T", "end": 3535, "referenceAllele": "G", "start": 3534 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "NM_001166136.2:c.2803G>T" ], "proteinEffect": { "hgvs": "NP_001159608.1:p.Glu935Ter", "hgvsWellDefined": "NP_001159608.1:p.Glu935_Asp1228delinsSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713172" } ], "type": "nucleotide" }