{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA356144345", "communityStandardTitle": [ "NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=981469[alleleid]", "alleleId": 981469, "preferredName": "NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/993460", "RCV": [ "RCV001812320", "RCV001871668" ], "variationId": 993460 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5624282C>T?assembly=hg19", "id": "chr4:g.5624282C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5622555C>T?assembly=hg38", "id": "chr4:g.5622555C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1715768907", "rs": 1715768907 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5622555, "referenceAllele": "C", "start": 5622554 } ], "hgvs": [ "NC_000004.12:g.5622555C>T", "CM000666.2:g.5622555C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5624282, "referenceAllele": "C", "start": 5624281 } ], "hgvs": [ "NC_000004.11:g.5624282C>T", "CM000666.1:g.5624282C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5675183, "referenceAllele": "C", "start": 5675182 } ], "hgvs": [ "NC_000004.10:g.5675183C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 91994, "referenceAllele": "G", "start": 91993 } ], "hgvs": [ "NG_015821.1:g.91994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002853" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2529, "referenceAllele": "G", "start": 2528 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "ENST00000344408.10:c.2483G>A" ], "proteinEffect": { "hgvs": "ENSP00000342144.5:p.Trp828Ter", "hgvsWellDefined": "ENSP00000342144.5:p.Trp828_Asp1308delinsGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748212", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000344408.10:c.2483G>A" }, "RefSeq": { "hgvs": "NM_147127.5:c.2483G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000342144.5:p.Trp828Ter" }, "RefSeq": { "hgvs": "NP_667338.3:p.Trp828Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2975, "referenceAllele": "G", "start": 2974 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "ENST00000310917.6:c.2243G>A" ], "proteinEffect": { "hgvs": "ENSP00000311683.2:p.Trp748Ter", "hgvsWellDefined": "ENSP00000311683.2:p.Trp748_Asp1228delinsGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256435" }, { "coordinates": [ { "allele": "A", "end": 2537, "referenceAllele": "G", "start": 2536 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "ENST00000344408.9:c.2483G>A" ], "proteinEffect": { "hgvs": "ENSP00000342144.5:p.Trp828Ter", "hgvsWellDefined": "ENSP00000342144.5:p.Trp828_Asp1308delinsGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261966" }, { "coordinates": [ { "allele": "A", "end": 2975, "referenceAllele": "G", "start": 2974 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "ENST00000475313.5:c.2243G>A" ], "proteinEffect": { "hgvs": "ENSP00000431981.1:p.Trp748Ter", "hgvsWellDefined": "ENSP00000431981.1:p.Trp748_Lys1166delinsGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnArgSerGlyAsnGlnGluSerPheTrpGlnTyrLeuValGlyThrProGluIleGlyLeuIleGluTrpMetSerGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS316623" }, { "coordinates": [ { "allele": "A", "end": 2576, "referenceAllele": "G", "start": 2575 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "ENST00000509670.1:c.*876G>A" ], "proteinEffect": { "hgvs": "ENSP00000423876.1:n.*876G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS340384" }, { "@id": "http://reg.genome.network/allele/PA2826025590", "coordinates": [ { "allele": "A", "end": 2975, "referenceAllele": "G", "start": 2974 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "NM_001166136.1:c.2243G>A" ], "proteinEffect": { "hgvs": "NP_001159608.1:p.Trp748Ter", "hgvsWellDefined": "NP_001159608.1:p.Trp748_Asp1228delinsGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014807" }, { "@id": "http://reg.genome.network/allele/PA658830315", "coordinates": [ { "allele": "A", "end": 2537, "referenceAllele": "G", "start": 2536 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "NM_147127.4:c.2483G>A" ], "proteinEffect": { "hgvs": "NP_667338.3:p.Trp828Ter", "hgvsWellDefined": "NP_667338.3:p.Trp828_Asp1308delinsGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS041593" }, { "coordinates": [ { "allele": "A", "end": 2545, "referenceAllele": "G", "start": 2544 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_011513392.1:c.2492G>A" ], "proteinEffect": { "hgvs": "XP_011511694.1:p.Trp831Ter", "hgvsWellDefined": "XP_011511694.1:p.Trp831_Asp1311delinsGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080644" }, { "coordinates": [ { "allele": "A", "end": 2545, "referenceAllele": "G", "start": 2544 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_011513393.1:c.2492G>A" ], "proteinEffect": { "hgvs": "XP_011511695.1:p.Trp831Ter", "hgvsWellDefined": "XP_011511695.1:p.Trp831_Gly1248delinsGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnArgCysTyrAlaLysCysGlnThrThrValAsnCysArgGlyLysThrArgValSerGluLeuPheHisArgTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080645" }, { "coordinates": [ { "allele": "A", "end": 2435, "referenceAllele": "G", "start": 2434 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_011513394.1:c.2252G>A" ], "proteinEffect": { "hgvs": "XP_011511696.1:p.Trp751Ter", "hgvsWellDefined": "XP_011511696.1:p.Trp751_Asp1231delinsGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080646" }, { "coordinates": [ { "allele": "A", "end": 2526, "referenceAllele": "G", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_017007736.1:c.2243G>A" ], "proteinEffect": { "hgvs": "XP_016863225.1:p.Trp748Ter", "hgvsWellDefined": "XP_016863225.1:p.Trp748_Asp1228delinsGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562408" }, { "coordinates": [ { "allele": "A", "end": 2413, "referenceAllele": "G", "start": 2412 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_017007737.1:c.2243G>A" ], "proteinEffect": { "hgvs": "XP_016863226.1:p.Trp748Ter", "hgvsWellDefined": "XP_016863226.1:p.Trp748_Asp1228delinsGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562409" }, { "coordinates": [ { "allele": "A", "end": 2548, "referenceAllele": "G", "start": 2547 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_017007738.1:c.2483G>A" ], "proteinEffect": { "hgvs": "XP_016863227.1:p.Trp828Ter", "hgvsWellDefined": "XP_016863227.1:p.Trp828_Gln1090delinsGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562410" }, { "coordinates": [ { "allele": "A", "end": 2571, "referenceAllele": "G", "start": 2570 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_017007739.1:c.803G>A" ], "proteinEffect": { "hgvs": "XP_016863228.1:p.Trp268Ter", "hgvsWellDefined": "XP_016863228.1:p.Trp268_Asp748delinsGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562411" }, { "coordinates": [ { "allele": "A", "end": 2323, "referenceAllele": "G", "start": 2322 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_024453893.1:c.803G>A" ], "proteinEffect": { "hgvs": "XP_024309661.1:p.Trp268Ter", "hgvsWellDefined": "XP_024309661.1:p.Trp268_Asp748delinsGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587265" }, { "coordinates": [ { "allele": "A", "end": 2548, "referenceAllele": "G", "start": 2547 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XR_001741141.1:n.2548G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591184" }, { "@id": "http://reg.genome.network/allele/PA658830315", "coordinates": [ { "allele": "A", "end": 2529, "referenceAllele": "G", "start": 2528 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "NM_147127.5:c.2483G>A" ], "proteinEffect": { "hgvs": "NP_667338.3:p.Trp828Ter", "hgvsWellDefined": "NP_667338.3:p.Trp828_Asp1308delinsGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672229", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000344408.10:c.2483G>A" }, "RefSeq": { "hgvs": "NM_147127.5:c.2483G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000342144.5:p.Trp828Ter" }, "RefSeq": { "hgvs": "NP_667338.3:p.Trp828Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826025590", "coordinates": [ { "allele": "A", "end": 2975, "referenceAllele": "G", "start": 2974 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "NM_001166136.2:c.2243G>A" ], "proteinEffect": { "hgvs": "NP_001159608.1:p.Trp748Ter", "hgvsWellDefined": "NP_001159608.1:p.Trp748_Asp1228delinsGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713172" } ], "type": "nucleotide" }