{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA010892", "communityStandardTitle": [ "NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186424[alleleid]", "alleleId": 186424, "preferredName": "NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188658", "RCV": [ "RCV001778768", "RCV001389963", "RCV002326930" ], "variationId": 188658 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.33003901G>A?assembly=hg19", "id": "chr12:g.33003901G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.32850967G>A?assembly=hg38", "id": "chr12:g.32850967G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/786204393", "rs": 786204393 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-32850967-G-A?dataset=gnomad_r4", "id": "12-32850967-G-A", "variant": "12:32850967 G / A" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 32850967, "referenceAllele": "G", "start": 32850966 } ], "hgvs": [ "NC_000012.12:g.32850967G>A", "CM000674.2:g.32850967G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 33003901, "referenceAllele": "G", "start": 33003900 } ], "hgvs": [ "NC_000012.11:g.33003901G>A", "CM000674.1:g.33003901G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 32895168, "referenceAllele": "G", "start": 32895167 } ], "hgvs": [ "NC_000012.10:g.32895168G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 50880, "referenceAllele": "C", "start": 50879 } ], "hgvs": [ "NG_009000.1:g.50880C>T", "LRG_398:g.50880C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001371" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1244, "referenceAllele": "C", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN009024", "geneNCBI_id": 5318, "geneSymbol": "PKP2", "hgvs": [ "ENST00000700559.2:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000515065.2:p.Gln393Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914482" }, { "coordinates": [ { "allele": "T", "end": 1223, "referenceAllele": "C", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN009024", "geneNCBI_id": 5318, "geneSymbol": "PKP2", "hgvs": [ "ENST00000700563.2:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000515066.2:p.Gln393Ter", "hgvsWellDefined": "ENSP00000515066.2:p.Gln393_Val682delinsLeuArgGlyIleLeuLysLeuLeuGlnLeuLeuLysValGlnAsnGluAspValGlnArgAlaValCysGlyAlaLeuArgAsnLeuValPheGluAspAsnAspAsnLysLeuGluValAlaGluLeuAsnGlyValProArgLeuLeuGlnValLeuLysGlnThrArgAspLeuGluThrLysLysGlnIleThrGlyLeuLeuTrpAsnLeuSerSerAsnAspLysLeuLysAsnLeuMetIleThrGluAlaLeuLeuThrLeuThrGluAsnIleIleIleProPheSerGlyTrpProGluGlyAspTyrProLysAlaAsnGlyLeuLeuAspPheAspIlePheTyrAsnValThrGlyCysLeuArgAsnMetSerSerAlaGlyAlaAspGlyArgLysAlaMetArgArgCysAspGlyLeuIleAspSerLeuValHisTyrValArgGlyThrIleAlaAspTyrGlnProAspAspLysAlaThrGluAsnCysValCysIleLeuHisAsnLeuSerTyrGlnLeuGluAlaGluLeuProGluLysTyrSerGlnAsnIleTyrIleGlnAsnArgAsnIleGlnThrAspAsnAsnLysSerIleGlyCysPheGlySerArgSerArgLysValLysGluGlnTyrGlnAspValProMetProGluGluLysSerAsnProLysGlyValGluTrpLeuTrpHisSerIleValIleArgMetTyrLeuSerLeuIleAlaLysSerValArgAsnTyrThrGlnGluAlaSerLeuGlyAlaLeuGlnAsnLeuThrAlaGlySerGlyProLeuGlnIleSerGluSerCysLeuLysLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914483" }, { "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "C", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN009024", "geneNCBI_id": 5318, "geneSymbol": "PKP2", "hgvs": [ "ENST00000700559.1:c.392C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911307" }, { "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "C", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN009024", "geneNCBI_id": 5318, "geneSymbol": "PKP2", "hgvs": [ "ENST00000700560.1:n.392C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911308" }, { "coordinates": [ { "allele": "T", "end": 518, "referenceAllele": "C", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN009024", "geneNCBI_id": 5318, "geneSymbol": "PKP2", "hgvs": [ "ENST00000700561.1:n.518C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911309" }, { "coordinates": [ { "allele": "T", "end": 1131, "referenceAllele": "C", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN009024", "geneNCBI_id": 5318, "geneSymbol": "PKP2", "hgvs": [ "ENST00000700563.1:c.1131C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911311" }, { "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN009024", "geneNCBI_id": 5318, "geneSymbol": "PKP2", "hgvs": [ "ENST00000700564.1:n.1181C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911312" }, { "coordinates": [ { "allele": "T", "end": 1030, "referenceAllele": "C", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN009024", "geneNCBI_id": 5318, "geneSymbol": "PKP2", "hgvs": [ "ENST00000700565.1:n.1030C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911313" }, { "coordinates": [ { "allele": "T", "end": 1223, "referenceAllele": "C", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN009024", "geneNCBI_id": 5318, "geneSymbol": "PKP2", "hgvs": [ "ENST00000070846.11:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000070846.6:p.Gln393Ter", "hgvsWellDefined": "ENSP00000070846.6:p.Gln393_Asp881delinsLeuArgGlyIleLeuLysLeuLeuGlnLeuLeuLysValGlnAsnGluAspValGlnArgAlaValCysGlyAlaLeuArgAsnLeuValPheGluAspAsnAspAsnLysLeuGluValAlaGluLeuAsnGlyValProArgLeuLeuGlnValLeuLysGlnThrArgAspLeuGluThrLysLysGlnIleThrAspHisThrValAsnLeuArgSerArgAsnGlyTrpProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyGlnGlyGlyArgIleThrArgSerGlyValArgAspGlnProAspGlnHisGlyLeuLeuTrpAsnLeuSerSerAsnAspLysLeuLysAsnLeuMetIleThrGluAlaLeuLeuThrLeuThrGluAsnIleIleIleProPheSerGlyTrpProGluGlyAspTyrProLysAlaAsnGlyLeuLeuAspPheAspIlePheTyrAsnValThrGlyCysLeuArgAsnMetSerSerAlaGlyAlaAspGlyArgLysAlaMetArgArgCysAspGlyLeuIleAspSerLeuValHisTyrValArgGlyThrIleAlaAspTyrGlnProAspAspLysAlaThrGluAsnCysValCysIleLeuHisAsnLeuSerTyrGlnLeuGluAlaGluLeuProGluLysTyrSerGlnAsnIleTyrIleGlnAsnArgAsnIleGlnThrAspAsnAsnLysSerIleGlyCysPheGlySerArgSerArgLysValLysGluGlnTyrGlnAspValProMetProGluGluLysSerAsnProLysGlyValGluTrpLeuTrpHisSerIleValIleArgMetTyrLeuSerLeuIleAlaLysSerValArgAsnTyrThrGlnGluAlaSerLeuGlyAlaLeuGlnAsnLeuThrAlaGlySerGlyProMetProThrSerValAlaGlnThrValValGlnLysGluSerGlyLeuGlnHisThrArgLysMetLeuHisValGlyAspProSerValLysLysThrAlaIleSerLeuLeuArgAsnLeuSerArgAsnLeuSerLeuGlnAsnGluIleAlaLysGluThrLeuProAspLeuValSerIleIleProAspThrValProSerThrAspLeuLeuIleGluThrThrAlaSerAlaCysTyrThrLeuAsnAsnIleIleGlnAsnSerTyrGlnAsnAlaArgAspLeuLeuAsnThrGlyGlyIleGlnLysIleMetAlaIleSerAlaGlyAspAlaTyrAlaSerAsnLysAlaSerLysAlaAlaSerValLeuLeuTyrSerLeuTrpAlaHisThrGluLeuHisHisAlaTyrLysLysAlaGlnPheLysLysThrAspPheValAsnSerArgThrAlaLysAlaTyrHisSerLeuLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS823539" }, { "coordinates": [ { "allele": "T", "end": 1223, "referenceAllele": "C", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN009024", "geneNCBI_id": 5318, "geneSymbol": "PKP2", "hgvs": [ "ENST00000340811.9:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000342800.5:p.Gln393Ter", "hgvsWellDefined": "ENSP00000342800.5:p.Gln393_Asp837delinsLeuArgGlyIleLeuLysLeuLeuGlnLeuLeuLysValGlnAsnGluAspValGlnArgAlaValCysGlyAlaLeuArgAsnLeuValPheGluAspAsnAspAsnLysLeuGluValAlaGluLeuAsnGlyValProArgLeuLeuGlnValLeuLysGlnThrArgAspLeuGluThrLysLysGlnIleThrGlyLeuLeuTrpAsnLeuSerSerAsnAspLysLeuLysAsnLeuMetIleThrGluAlaLeuLeuThrLeuThrGluAsnIleIleIleProPheSerGlyTrpProGluGlyAspTyrProLysAlaAsnGlyLeuLeuAspPheAspIlePheTyrAsnValThrGlyCysLeuArgAsnMetSerSerAlaGlyAlaAspGlyArgLysAlaMetArgArgCysAspGlyLeuIleAspSerLeuValHisTyrValArgGlyThrIleAlaAspTyrGlnProAspAspLysAlaThrGluAsnCysValCysIleLeuHisAsnLeuSerTyrGlnLeuGluAlaGluLeuProGluLysTyrSerGlnAsnIleTyrIleGlnAsnArgAsnIleGlnThrAspAsnAsnLysSerIleGlyCysPheGlySerArgSerArgLysValLysGluGlnTyrGlnAspValProMetProGluGluLysSerAsnProLysGlyValGluTrpLeuTrpHisSerIleValIleArgMetTyrLeuSerLeuIleAlaLysSerValArgAsnTyrThrGlnGluAlaSerLeuGlyAlaLeuGlnAsnLeuThrAlaGlySerGlyProMetProThrSerValAlaGlnThrValValGlnLysGluSerGlyLeuGlnHisThrArgLysMetLeuHisValGlyAspProSerValLysLysThrAlaIleSerLeuLeuArgAsnLeuSerArgAsnLeuSerLeuGlnAsnGluIleAlaLysGluThrLeuProAspLeuValSerIleIleProAspThrValProSerThrAspLeuLeuIleGluThrThrAlaSerAlaCysTyrThrLeuAsnAsnIleIleGlnAsnSerTyrGlnAsnAlaArgAspLeuLeuAsnThrGlyGlyIleGlnLysIleMetAlaIleSerAlaGlyAspAlaTyrAlaSerAsnLysAlaSerLysAlaAlaSerValLeuLeuTyrSerLeuTrpAlaHisThrGluLeuHisHisAlaTyrLysLysAlaGlnPheLysLysThrAspPheValAsnSerArgThrAlaLysAlaTyrHisSerLeuLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747932", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000340811.9:c.1177C>T" }, "RefSeq": { "hgvs": "NM_001005242.3:c.1177C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000342800.5:p.Gln393Ter" }, "RefSeq": { "hgvs": "NP_001005242.2:p.Gln393Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1202, "referenceAllele": "C", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN009024", "geneNCBI_id": 5318, "geneSymbol": "PKP2", "hgvs": [ "ENST00000070846.10:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000070846.6:p.Gln393Ter", "hgvsWellDefined": "ENSP00000070846.6:p.Gln393_Asp881delinsLeuArgGlyIleLeuLysLeuLeuGlnLeuLeuLysValGlnAsnGluAspValGlnArgAlaValCysGlyAlaLeuArgAsnLeuValPheGluAspAsnAspAsnLysLeuGluValAlaGluLeuAsnGlyValProArgLeuLeuGlnValLeuLysGlnThrArgAspLeuGluThrLysLysGlnIleThrAspHisThrValAsnLeuArgSerArgAsnGlyTrpProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyGlnGlyGlyArgIleThrArgSerGlyValArgAspGlnProAspGlnHisGlyLeuLeuTrpAsnLeuSerSerAsnAspLysLeuLysAsnLeuMetIleThrGluAlaLeuLeuThrLeuThrGluAsnIleIleIleProPheSerGlyTrpProGluGlyAspTyrProLysAlaAsnGlyLeuLeuAspPheAspIlePheTyrAsnValThrGlyCysLeuArgAsnMetSerSerAlaGlyAlaAspGlyArgLysAlaMetArgArgCysAspGlyLeuIleAspSerLeuValHisTyrValArgGlyThrIleAlaAspTyrGlnProAspAspLysAlaThrGluAsnCysValCysIleLeuHisAsnLeuSerTyrGlnLeuGluAlaGluLeuProGluLysTyrSerGlnAsnIleTyrIleGlnAsnArgAsnIleGlnThrAspAsnAsnLysSerIleGlyCysPheGlySerArgSerArgLysValLysGluGlnTyrGlnAspValProMetProGluGluLysSerAsnProLysGlyValGluTrpLeuTrpHisSerIleValIleArgMetTyrLeuSerLeuIleAlaLysSerValArgAsnTyrThrGlnGluAlaSerLeuGlyAlaLeuGlnAsnLeuThrAlaGlySerGlyProMetProThrSerValAlaGlnThrValValGlnLysGluSerGlyLeuGlnHisThrArgLysMetLeuHisValGlyAspProSerValLysLysThrAlaIleSerLeuLeuArgAsnLeuSerArgAsnLeuSerLeuGlnAsnGluIleAlaLysGluThrLeuProAspLeuValSerIleIleProAspThrValProSerThrAspLeuLeuIleGluThrThrAlaSerAlaCysTyrThrLeuAsnAsnIleIleGlnAsnSerTyrGlnAsnAlaArgAspLeuLeuAsnThrGlyGlyIleGlnLysIleMetAlaIleSerAlaGlyAspAlaTyrAlaSerAsnLysAlaSerLysAlaAlaSerValLeuLeuTyrSerLeuTrpAlaHisThrGluLeuHisHisAlaTyrLysLysAlaGlnPheLysLysThrAspPheValAsnSerArgThrAlaLysAlaTyrHisSerLeuLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247414" }, { "coordinates": [ { "allele": "T", "end": 1286, "referenceAllele": "C", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN009024", "geneNCBI_id": 5318, "geneSymbol": "PKP2", "hgvs": [ "ENST00000340811.8:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000342800.4:p.Gln393Ter", "hgvsWellDefined": "ENSP00000342800.4:p.Gln393_Asp837delinsLeuArgGlyIleLeuLysLeuLeuGlnLeuLeuLysValGlnAsnGluAspValGlnArgAlaValCysGlyAlaLeuArgAsnLeuValPheGluAspAsnAspAsnLysLeuGluValAlaGluLeuAsnGlyValProArgLeuLeuGlnValLeuLysGlnThrArgAspLeuGluThrLysLysGlnIleThrGlyLeuLeuTrpAsnLeuSerSerAsnAspLysLeuLysAsnLeuMetIleThrGluAlaLeuLeuThrLeuThrGluAsnIleIleIleProPheSerGlyTrpProGluGlyAspTyrProLysAlaAsnGlyLeuLeuAspPheAspIlePheTyrAsnValThrGlyCysLeuArgAsnMetSerSerAlaGlyAlaAspGlyArgLysAlaMetArgArgCysAspGlyLeuIleAspSerLeuValHisTyrValArgGlyThrIleAlaAspTyrGlnProAspAspLysAlaThrGluAsnCysValCysIleLeuHisAsnLeuSerTyrGlnLeuGluAlaGluLeuProGluLysTyrSerGlnAsnIleTyrIleGlnAsnArgAsnIleGlnThrAspAsnAsnLysSerIleGlyCysPheGlySerArgSerArgLysValLysGluGlnTyrGlnAspValProMetProGluGluLysSerAsnProLysGlyValGluTrpLeuTrpHisSerIleValIleArgMetTyrLeuSerLeuIleAlaLysSerValArgAsnTyrThrGlnGluAlaSerLeuGlyAlaLeuGlnAsnLeuThrAlaGlySerGlyProMetProThrSerValAlaGlnThrValValGlnLysGluSerGlyLeuGlnHisThrArgLysMetLeuHisValGlyAspProSerValLysLysThrAlaIleSerLeuLeuArgAsnLeuSerArgAsnLeuSerLeuGlnAsnGluIleAlaLysGluThrLeuProAspLeuValSerIleIleProAspThrValProSerThrAspLeuLeuIleGluThrThrAlaSerAlaCysTyrThrLeuAsnAsnIleIleGlnAsnSerTyrGlnAsnAlaArgAspLeuLeuAsnThrGlyGlyIleGlnLysIleMetAlaIleSerAlaGlyAspAlaTyrAlaSerAsnLysAlaSerLysAlaAlaSerValLeuLeuTyrSerLeuTrpAlaHisThrGluLeuHisHisAlaTyrLysLysAlaGlnPheLysLysThrAspPheValAsnSerArgThrAlaLysAlaTyrHisSerLeuLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247364" }, { "coordinates": [ { "allele": "T", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN009024", "geneNCBI_id": 5318, "geneSymbol": "PKP2", "hgvs": [ "ENST00000613243.1:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000478295.1:p.Gln393Ter", "hgvsWellDefined": "ENSP00000478295.1:p.Gln393_His824delinsLeuArgGlyIleLeuLysLeuLeuGlnLeuLeuLysValGlnAsnGluAspValGlnArgAlaValCysGlyAlaLeuArgAsnLeuValPheGluAspAsnAspAsnLysLeuGluValAlaGluLeuAsnGlyValProArgLeuLeuGlnValLeuLysGlnThrArgAspLeuGluThrLysLysGlnIleThrAspHisThrValAsnLeuArgSerArgAsnGlyTrpProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyGlnGlyGlyArgIleThrArgSerGlyValArgAspGlnProAspGlnHisGlyLeuLeuTrpAsnLeuSerSerAsnAspLysLeuLysAsnLeuMetIleThrGluAlaLeuLeuThrLeuThrGluAsnIleIleIleProPheSerGlyTrpProGluGlyAspTyrProLysAlaAsnGlyLeuLeuAspPheAspIlePheTyrAsnValThrGlyCysLeuArgAsnMetSerSerAlaGlyAlaAspGlyArgLysAlaMetArgArgCysAspGlyLeuIleAspSerLeuValHisTyrValArgGlyThrIleAlaAspTyrGlnProAspAspLysAlaThrGluAsnCysValCysIleLeuHisAsnLeuSerTyrGlnLeuGluAlaGluLeuProGluLysTyrSerGlnAsnIleTyrIleGlnAsnArgAsnIleGlnThrAspAsnAsnLysSerIleGlyCysPheGlySerArgSerArgLysValLysGluGlnTyrGlnAspValProMetProGluGluLysSerAsnProLysGlyValGluTrpLeuTrpHisSerIleValIleArgMetTyrLeuSerLeuIleAlaLysSerValArgAsnTyrThrGlnGluAlaSerLeuGlyAlaLeuGlnAsnLeuThrAlaGlySerGlyProMetProThrSerValAlaGlnThrValValGlnLysGluSerGlyLeuGlnHisThrArgLysMetLeuHisValGlyAspProSerValLysLysThrAlaIleSerLeuLeuArgAsnLeuSerArgAsnLeuSerLeuGlnAsnGluIleAlaLysGluThrLeuProAspLeuValSerIleIleProAspThrValProSerThrAspLeuLeuIleGluThrThrAlaSerAlaCysTyrThrLeuAsnAsnIleIleGlnAsnSerTyrGlnAsnAlaArgAspLeuLeuAsnArgGlyHisProGluAsnTyrGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401661" }, { "@id": "http://reg.genome.network/allele/PA2825259942", "coordinates": [ { "allele": "T", "end": 1292, "referenceAllele": "C", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN009024", "geneNCBI_id": 5318, "geneSymbol": "PKP2", "hgvs": [ "NM_001005242.2:c.1177C>T" ], "proteinEffect": { "hgvs": "NP_001005242.2:p.Gln393Ter", "hgvsWellDefined": "NP_001005242.2:p.Gln393_Asp837delinsLeuArgGlyIleLeuLysLeuLeuGlnLeuLeuLysValGlnAsnGluAspValGlnArgAlaValCysGlyAlaLeuArgAsnLeuValPheGluAspAsnAspAsnLysLeuGluValAlaGluLeuAsnGlyValProArgLeuLeuGlnValLeuLysGlnThrArgAspLeuGluThrLysLysGlnIleThrGlyLeuLeuTrpAsnLeuSerSerAsnAspLysLeuLysAsnLeuMetIleThrGluAlaLeuLeuThrLeuThrGluAsnIleIleIleProPheSerGlyTrpProGluGlyAspTyrProLysAlaAsnGlyLeuLeuAspPheAspIlePheTyrAsnValThrGlyCysLeuArgAsnMetSerSerAlaGlyAlaAspGlyArgLysAlaMetArgArgCysAspGlyLeuIleAspSerLeuValHisTyrValArgGlyThrIleAlaAspTyrGlnProAspAspLysAlaThrGluAsnCysValCysIleLeuHisAsnLeuSerTyrGlnLeuGluAlaGluLeuProGluLysTyrSerGlnAsnIleTyrIleGlnAsnArgAsnIleGlnThrAspAsnAsnLysSerIleGlyCysPheGlySerArgSerArgLysValLysGluGlnTyrGlnAspValProMetProGluGluLysSerAsnProLysGlyValGluTrpLeuTrpHisSerIleValIleArgMetTyrLeuSerLeuIleAlaLysSerValArgAsnTyrThrGlnGluAlaSerLeuGlyAlaLeuGlnAsnLeuThrAlaGlySerGlyProMetProThrSerValAlaGlnThrValValGlnLysGluSerGlyLeuGlnHisThrArgLysMetLeuHisValGlyAspProSerValLysLysThrAlaIleSerLeuLeuArgAsnLeuSerArgAsnLeuSerLeuGlnAsnGluIleAlaLysGluThrLeuProAspLeuValSerIleIleProAspThrValProSerThrAspLeuLeuIleGluThrThrAlaSerAlaCysTyrThrLeuAsnAsnIleIleGlnAsnSerTyrGlnAsnAlaArgAspLeuLeuAsnThrGlyGlyIleGlnLysIleMetAlaIleSerAlaGlyAspAlaTyrAlaSerAsnLysAlaSerLysAlaAlaSerValLeuLeuTyrSerLeuTrpAlaHisThrGluLeuHisHisAlaTyrLysLysAlaGlnPheLysLysThrAspPheValAsnSerArgThrAlaLysAlaTyrHisSerLeuLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007648" }, { "@id": "http://reg.genome.network/allele/PA273874", "coordinates": [ { "allele": "T", "end": 1292, "referenceAllele": "C", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN009024", "geneNCBI_id": 5318, "geneSymbol": "PKP2", "hgvs": [ "NM_004572.3:c.1177C>T", "LRG_398t1:c.1177C>T" ], "proteinEffect": { "hgvs": "NP_004563.2:p.Gln393Ter", "hgvsWellDefined": "NP_004563.2:p.Gln393_Asp881delinsLeuArgGlyIleLeuLysLeuLeuGlnLeuLeuLysValGlnAsnGluAspValGlnArgAlaValCysGlyAlaLeuArgAsnLeuValPheGluAspAsnAspAsnLysLeuGluValAlaGluLeuAsnGlyValProArgLeuLeuGlnValLeuLysGlnThrArgAspLeuGluThrLysLysGlnIleThrAspHisThrValAsnLeuArgSerArgAsnGlyTrpProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyGlnGlyGlyArgIleThrArgSerGlyValArgAspGlnProAspGlnHisGlyLeuLeuTrpAsnLeuSerSerAsnAspLysLeuLysAsnLeuMetIleThrGluAlaLeuLeuThrLeuThrGluAsnIleIleIleProPheSerGlyTrpProGluGlyAspTyrProLysAlaAsnGlyLeuLeuAspPheAspIlePheTyrAsnValThrGlyCysLeuArgAsnMetSerSerAlaGlyAlaAspGlyArgLysAlaMetArgArgCysAspGlyLeuIleAspSerLeuValHisTyrValArgGlyThrIleAlaAspTyrGlnProAspAspLysAlaThrGluAsnCysValCysIleLeuHisAsnLeuSerTyrGlnLeuGluAlaGluLeuProGluLysTyrSerGlnAsnIleTyrIleGlnAsnArgAsnIleGlnThrAspAsnAsnLysSerIleGlyCysPheGlySerArgSerArgLysValLysGluGlnTyrGlnAspValProMetProGluGluLysSerAsnProLysGlyValGluTrpLeuTrpHisSerIleValIleArgMetTyrLeuSerLeuIleAlaLysSerValArgAsnTyrThrGlnGluAlaSerLeuGlyAlaLeuGlnAsnLeuThrAlaGlySerGlyProMetProThrSerValAlaGlnThrValValGlnLysGluSerGlyLeuGlnHisThrArgLysMetLeuHisValGlyAspProSerValLysLysThrAlaIleSerLeuLeuArgAsnLeuSerArgAsnLeuSerLeuGlnAsnGluIleAlaLysGluThrLeuProAspLeuValSerIleIleProAspThrValProSerThrAspLeuLeuIleGluThrThrAlaSerAlaCysTyrThrLeuAsnAsnIleIleGlnAsnSerTyrGlnAsnAlaArgAspLeuLeuAsnThrGlyGlyIleGlnLysIleMetAlaIleSerAlaGlyAspAlaTyrAlaSerAsnLysAlaSerLysAlaAlaSerValLeuLeuTyrSerLeuTrpAlaHisThrGluLeuHisHisAlaTyrLysLysAlaGlnPheLysLysThrAspPheValAsnSerArgThrAlaLysAlaTyrHisSerLeuLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029728" }, { "@id": "http://reg.genome.network/allele/PA2825259942", "coordinates": [ { "allele": "T", "end": 1223, "referenceAllele": "C", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN009024", "geneNCBI_id": 5318, "geneSymbol": "PKP2", "hgvs": [ "NM_001005242.3:c.1177C>T" ], "proteinEffect": { "hgvs": "NP_001005242.2:p.Gln393Ter", "hgvsWellDefined": "NP_001005242.2:p.Gln393_Asp837delinsLeuArgGlyIleLeuLysLeuLeuGlnLeuLeuLysValGlnAsnGluAspValGlnArgAlaValCysGlyAlaLeuArgAsnLeuValPheGluAspAsnAspAsnLysLeuGluValAlaGluLeuAsnGlyValProArgLeuLeuGlnValLeuLysGlnThrArgAspLeuGluThrLysLysGlnIleThrGlyLeuLeuTrpAsnLeuSerSerAsnAspLysLeuLysAsnLeuMetIleThrGluAlaLeuLeuThrLeuThrGluAsnIleIleIleProPheSerGlyTrpProGluGlyAspTyrProLysAlaAsnGlyLeuLeuAspPheAspIlePheTyrAsnValThrGlyCysLeuArgAsnMetSerSerAlaGlyAlaAspGlyArgLysAlaMetArgArgCysAspGlyLeuIleAspSerLeuValHisTyrValArgGlyThrIleAlaAspTyrGlnProAspAspLysAlaThrGluAsnCysValCysIleLeuHisAsnLeuSerTyrGlnLeuGluAlaGluLeuProGluLysTyrSerGlnAsnIleTyrIleGlnAsnArgAsnIleGlnThrAspAsnAsnLysSerIleGlyCysPheGlySerArgSerArgLysValLysGluGlnTyrGlnAspValProMetProGluGluLysSerAsnProLysGlyValGluTrpLeuTrpHisSerIleValIleArgMetTyrLeuSerLeuIleAlaLysSerValArgAsnTyrThrGlnGluAlaSerLeuGlyAlaLeuGlnAsnLeuThrAlaGlySerGlyProMetProThrSerValAlaGlnThrValValGlnLysGluSerGlyLeuGlnHisThrArgLysMetLeuHisValGlyAspProSerValLysLysThrAlaIleSerLeuLeuArgAsnLeuSerArgAsnLeuSerLeuGlnAsnGluIleAlaLysGluThrLeuProAspLeuValSerIleIleProAspThrValProSerThrAspLeuLeuIleGluThrThrAlaSerAlaCysTyrThrLeuAsnAsnIleIleGlnAsnSerTyrGlnAsnAlaArgAspLeuLeuAsnThrGlyGlyIleGlnLysIleMetAlaIleSerAlaGlyAspAlaTyrAlaSerAsnLysAlaSerLysAlaAlaSerValLeuLeuTyrSerLeuTrpAlaHisThrGluLeuHisHisAlaTyrLysLysAlaGlnPheLysLysThrAspPheValAsnSerArgThrAlaLysAlaTyrHisSerLeuLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675174", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000340811.9:c.1177C>T" }, "RefSeq": { "hgvs": "NM_001005242.3:c.1177C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000342800.5:p.Gln393Ter" }, "RefSeq": { "hgvs": "NP_001005242.2:p.Gln393Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA273874", "coordinates": [ { "allele": "T", "end": 1223, "referenceAllele": "C", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN009024", "geneNCBI_id": 5318, "geneSymbol": "PKP2", "hgvs": [ "NM_004572.4:c.1177C>T" ], "proteinEffect": { "hgvs": "NP_004563.2:p.Gln393Ter", "hgvsWellDefined": "NP_004563.2:p.Gln393_Asp881delinsLeuArgGlyIleLeuLysLeuLeuGlnLeuLeuLysValGlnAsnGluAspValGlnArgAlaValCysGlyAlaLeuArgAsnLeuValPheGluAspAsnAspAsnLysLeuGluValAlaGluLeuAsnGlyValProArgLeuLeuGlnValLeuLysGlnThrArgAspLeuGluThrLysLysGlnIleThrAspHisThrValAsnLeuArgSerArgAsnGlyTrpProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyGlnGlyGlyArgIleThrArgSerGlyValArgAspGlnProAspGlnHisGlyLeuLeuTrpAsnLeuSerSerAsnAspLysLeuLysAsnLeuMetIleThrGluAlaLeuLeuThrLeuThrGluAsnIleIleIleProPheSerGlyTrpProGluGlyAspTyrProLysAlaAsnGlyLeuLeuAspPheAspIlePheTyrAsnValThrGlyCysLeuArgAsnMetSerSerAlaGlyAlaAspGlyArgLysAlaMetArgArgCysAspGlyLeuIleAspSerLeuValHisTyrValArgGlyThrIleAlaAspTyrGlnProAspAspLysAlaThrGluAsnCysValCysIleLeuHisAsnLeuSerTyrGlnLeuGluAlaGluLeuProGluLysTyrSerGlnAsnIleTyrIleGlnAsnArgAsnIleGlnThrAspAsnAsnLysSerIleGlyCysPheGlySerArgSerArgLysValLysGluGlnTyrGlnAspValProMetProGluGluLysSerAsnProLysGlyValGluTrpLeuTrpHisSerIleValIleArgMetTyrLeuSerLeuIleAlaLysSerValArgAsnTyrThrGlnGluAlaSerLeuGlyAlaLeuGlnAsnLeuThrAlaGlySerGlyProMetProThrSerValAlaGlnThrValValGlnLysGluSerGlyLeuGlnHisThrArgLysMetLeuHisValGlyAspProSerValLysLysThrAlaIleSerLeuLeuArgAsnLeuSerArgAsnLeuSerLeuGlnAsnGluIleAlaLysGluThrLeuProAspLeuValSerIleIleProAspThrValProSerThrAspLeuLeuIleGluThrThrAlaSerAlaCysTyrThrLeuAsnAsnIleIleGlnAsnSerTyrGlnAsnAlaArgAspLeuLeuAsnThrGlyGlyIleGlnLysIleMetAlaIleSerAlaGlyAspAlaTyrAlaSerAsnLysAlaSerLysAlaAlaSerValLeuLeuTyrSerLeuTrpAlaHisThrGluLeuHisHisAlaTyrLysLysAlaGlnPheLysLysThrAspPheValAsnSerArgThrAlaLysAlaTyrHisSerLeuLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727517" } ], "type": "nucleotide" }