{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA008681", "communityStandardTitle": [ "NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178578[alleleid]", "alleleId": 178578, "preferredName": "NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180379", "RCV": [ "RCV000157258", "RCV000412861", "RCV000545572", "RCV002362837" ], "variationId": 180379 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.150655378C>A?assembly=hg19", "id": "chr7:g.150655378C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.150958290C>A?assembly=hg38", "id": "chr7:g.150958290C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/730880116", "rs": 730880116 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-150958290-C-A?dataset=gnomad_r4", "id": "7-150958290-C-A", "variant": "7:150958290 C / A" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 150958290, "referenceAllele": "C", "start": 150958289 } ], "hgvs": [ "NC_000007.14:g.150958290C>A", "CM000669.2:g.150958290C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 150655378, "referenceAllele": "C", "start": 150655377 } ], "hgvs": [ "NC_000007.13:g.150655378C>A", "CM000669.1:g.150655378C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 150286311, "referenceAllele": "C", "start": 150286310 } ], "hgvs": [ "NC_000007.12:g.150286311C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 24637, "referenceAllele": "G", "start": 24636 } ], "hgvs": [ "NG_008916.1:g.24637G>T", "LRG_288:g.24637G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001295" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1518, "referenceAllele": "G", "start": 1517 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000684241.1:n.1518G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829198" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "G", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000262186.10:c.685G>T" ], "proteinEffect": { "hgvs": "ENSP00000262186.5:p.Glu229Ter", "hgvsWellDefined": "ENSP00000262186.5:p.Glu230_Ser1159delinsArgArgAlaLeuValGlyProGlySerProProArgSerAlaProGlyGlnLeuProSerProArgAlaHisSerLeuAsnProAspAlaSerGlySerSerCysSerLeuAlaArgThrArgSerArgGluSerCysAlaSerValArgArgAlaSerSerAlaAspAspIleGluAlaMetArgAlaGlyValLeuProProProProArgHisAlaSerThrGlyAlaMetHisProLeuArgSerGlyLeuLeuAsnSerThrSerAspSerAspLeuValArgTyrArgThrIleSerLysIleProGlnIleThrLeuAsnPheValAspLeuLysGlyAspProPheLeuAlaSerProThrSerAspArgGluIleIleAlaProLysIleLysGluArgThrHisAsnValThrGluLysValThrGlnValLeuSerLeuGlyAlaAspValLeuProGluTyrLysLeuGlnAlaProArgIleHisArgTrpThrIleLeuHisTyrSerProPheLysAlaValTrpAspTrpLeuIleLeuLeuLeuValIleTyrThrAlaValPheThrProTyrSerAlaAlaPheLeuLeuLysGluThrGluGluGlyProProAlaThrGluCysGlyTyrAlaCysGlnProLeuAlaValValAspLeuIleValAspIleMetPheIleValAspIleLeuIleAsnPheArgThrThrTyrValAsnAlaAsnGluGluValValSerHisProGlyArgIleAlaValHisTyrPheLysGlyTrpPheLeuIleAspMetValAlaAlaIleProPheAspLeuLeuIlePheGlySerGlySerGluGluLeuIleGlyLeuLeuLysThrAlaArgLeuLeuArgLeuValArgValAlaArgLysLeuAspArgTyrSerGluTyrGlyAlaAlaValLeuPheLeuLeuMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742291", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262186.10:c.685G>T" }, "RefSeq": { "hgvs": "NM_000238.4:c.685G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262186.5:p.Glu229Ter" }, "RefSeq": { "hgvs": "NP_000229.1:p.Glu229Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1087, "referenceAllele": "G", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000262186.9:c.685G>T" ], "proteinEffect": { "hgvs": "ENSP00000262186.5:p.Glu229Ter", "hgvsWellDefined": "ENSP00000262186.5:p.Glu230_Ser1159delinsArgArgAlaLeuValGlyProGlySerProProArgSerAlaProGlyGlnLeuProSerProArgAlaHisSerLeuAsnProAspAlaSerGlySerSerCysSerLeuAlaArgThrArgSerArgGluSerCysAlaSerValArgArgAlaSerSerAlaAspAspIleGluAlaMetArgAlaGlyValLeuProProProProArgHisAlaSerThrGlyAlaMetHisProLeuArgSerGlyLeuLeuAsnSerThrSerAspSerAspLeuValArgTyrArgThrIleSerLysIleProGlnIleThrLeuAsnPheValAspLeuLysGlyAspProPheLeuAlaSerProThrSerAspArgGluIleIleAlaProLysIleLysGluArgThrHisAsnValThrGluLysValThrGlnValLeuSerLeuGlyAlaAspValLeuProGluTyrLysLeuGlnAlaProArgIleHisArgTrpThrIleLeuHisTyrSerProPheLysAlaValTrpAspTrpLeuIleLeuLeuLeuValIleTyrThrAlaValPheThrProTyrSerAlaAlaPheLeuLeuLysGluThrGluGluGlyProProAlaThrGluCysGlyTyrAlaCysGlnProLeuAlaValValAspLeuIleValAspIleMetPheIleValAspIleLeuIleAsnPheArgThrThrTyrValAsnAlaAsnGluGluValValSerHisProGlyArgIleAlaValHisTyrPheLysGlyTrpPheLeuIleAspMetValAlaAlaIleProPheAspLeuLeuIlePheGlySerGlySerGluGluLeuIleGlyLeuLeuLysThrAlaArgLeuLeuArgLeuValArgValAlaArgLysLeuAspArgTyrSerGluTyrGlyAlaAlaValLeuPheLeuLeuMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247143" }, { "coordinates": [ { "allele": "T", "end": 666, "referenceAllele": "G", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000430723.4:c.337G>T" ], "proteinEffect": { "hgvs": "ENSP00000387657.4:p.Glu113Ter", "hgvsWellDefined": "ENSP00000387657.4:p.Glu114_Lys772delinsArgArgAlaLeuValGlyProGlySerProProArgSerAlaProGlyGlnLeuProSerProArgAlaHisSerLeuAsnProAspAlaSerGlySerSerCysSerLeuAlaArgThrArgSerArgGluSerCysAlaSerValArgArgAlaSerSerAlaAspAspIleGluAlaMetArgAlaGlyValLeuProProProProArgHisAlaSerThrGlyAlaMetHisProLeuArgSerGlyLeuLeuAsnSerThrSerAspSerAspLeuValArgTyrArgThrIleSerLysIleProGlnIleThrLeuAsnPheValAspLeuLysGlyAspProPheLeuAlaSerProThrSerAspArgGluIleIleAlaProLysIleLysGluArgThrHisAsnValThrGluLysValThrGlnValLeuSerLeuGlyAlaAspValLeuProGluTyrLysLeuGlnAlaProArgIleHisArgTrpThrIleLeuHisTyrSerProPheLysAlaValTrpAspTrpLeuIleLeuLeuLeuValIleTyrThrAlaValPheThrProTyrSerAlaAlaPheLeuLeuLysGluThrGluGluGlyProProAlaThrGluCysGlyTyrAlaCysGlnProLeuAlaValValAspLeuIleValAspIleMetPheIleValAspIleLeuIleAsnPheArgThrThrTyrValAsnAlaAsnGluGluValValSerHisProGlyArgIleAlaValHisTyrPheLysGlyTrpPheLeuIleAspMetValAlaAlaIleProPheAspLeuLeuIlePheGlySerGlySerGluGluLeuIleGlyLeuLeuLysThrAlaArgLeuLeuArgLeuValArgValAlaArgLysLeuAspArgTyrSerGluTyrGlyAlaAlaValLeuPheLeuLeuMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyMetGlyTrpGlyAlaGlyThrGlyLeuGluMetProSerAlaAlaSerArgGlyAlaSerLeuLeuAsnMetGlnSerLeuGlyLeuTrpThrTrpAspCysLeuGlnGlyHisTrpAlaProLeuIleHisLeuAsnSerGlyProProSerGlyAlaMetGluArgSerProThrTrpGlyGluAlaAlaGluLeuTrpGlySerHisIleLeuLeuProPheArgIleArgHisLysGlnThrLeuPheAlaSerLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247335" }, { "coordinates": [ { "allele": "T", "end": 908, "referenceAllele": "G", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000532957.5:n.908G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS357796" }, { "@id": "http://reg.genome.network/allele/PA346379", "coordinates": [ { "allele": "T", "end": 1086, "referenceAllele": "G", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_000238.3:c.685G>T", "LRG_288t1:c.685G>T" ], "proteinEffect": { "hgvs": "NP_000229.1:p.Glu229Ter", "hgvsWellDefined": "NP_000229.1:p.Glu230_Ser1159delinsArgArgAlaLeuValGlyProGlySerProProArgSerAlaProGlyGlnLeuProSerProArgAlaHisSerLeuAsnProAspAlaSerGlySerSerCysSerLeuAlaArgThrArgSerArgGluSerCysAlaSerValArgArgAlaSerSerAlaAspAspIleGluAlaMetArgAlaGlyValLeuProProProProArgHisAlaSerThrGlyAlaMetHisProLeuArgSerGlyLeuLeuAsnSerThrSerAspSerAspLeuValArgTyrArgThrIleSerLysIleProGlnIleThrLeuAsnPheValAspLeuLysGlyAspProPheLeuAlaSerProThrSerAspArgGluIleIleAlaProLysIleLysGluArgThrHisAsnValThrGluLysValThrGlnValLeuSerLeuGlyAlaAspValLeuProGluTyrLysLeuGlnAlaProArgIleHisArgTrpThrIleLeuHisTyrSerProPheLysAlaValTrpAspTrpLeuIleLeuLeuLeuValIleTyrThrAlaValPheThrProTyrSerAlaAlaPheLeuLeuLysGluThrGluGluGlyProProAlaThrGluCysGlyTyrAlaCysGlnProLeuAlaValValAspLeuIleValAspIleMetPheIleValAspIleLeuIleAsnPheArgThrThrTyrValAsnAlaAsnGluGluValValSerHisProGlyArgIleAlaValHisTyrPheLysGlyTrpPheLeuIleAspMetValAlaAlaIleProPheAspLeuLeuIlePheGlySerGlySerGluGluLeuIleGlyLeuLeuLysThrAlaArgLeuLeuArgLeuValArgValAlaArgLysLeuAspArgTyrSerGluTyrGlyAlaAlaValLeuPheLeuLeuMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006301" }, { "@id": "http://reg.genome.network/allele/PA346380", "coordinates": [ { "allele": "T", "end": 1086, "referenceAllele": "G", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172056.2:c.685G>T", "LRG_288t2:c.685G>T" ], "proteinEffect": { "hgvs": "NP_742053.1:p.Glu229Ter", "hgvsWellDefined": "NP_742053.1:p.Glu230_Lys888delinsArgArgAlaLeuValGlyProGlySerProProArgSerAlaProGlyGlnLeuProSerProArgAlaHisSerLeuAsnProAspAlaSerGlySerSerCysSerLeuAlaArgThrArgSerArgGluSerCysAlaSerValArgArgAlaSerSerAlaAspAspIleGluAlaMetArgAlaGlyValLeuProProProProArgHisAlaSerThrGlyAlaMetHisProLeuArgSerGlyLeuLeuAsnSerThrSerAspSerAspLeuValArgTyrArgThrIleSerLysIleProGlnIleThrLeuAsnPheValAspLeuLysGlyAspProPheLeuAlaSerProThrSerAspArgGluIleIleAlaProLysIleLysGluArgThrHisAsnValThrGluLysValThrGlnValLeuSerLeuGlyAlaAspValLeuProGluTyrLysLeuGlnAlaProArgIleHisArgTrpThrIleLeuHisTyrSerProPheLysAlaValTrpAspTrpLeuIleLeuLeuLeuValIleTyrThrAlaValPheThrProTyrSerAlaAlaPheLeuLeuLysGluThrGluGluGlyProProAlaThrGluCysGlyTyrAlaCysGlnProLeuAlaValValAspLeuIleValAspIleMetPheIleValAspIleLeuIleAsnPheArgThrThrTyrValAsnAlaAsnGluGluValValSerHisProGlyArgIleAlaValHisTyrPheLysGlyTrpPheLeuIleAspMetValAlaAlaIleProPheAspLeuLeuIlePheGlySerGlySerGluGluLeuIleGlyLeuLeuLysThrAlaArgLeuLeuArgLeuValArgValAlaArgLysLeuAspArgTyrSerGluTyrGlyAlaAlaValLeuPheLeuLeuMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyMetGlyTrpGlyAlaGlyThrGlyLeuGluMetProSerAlaAlaSerArgGlyAlaSerLeuLeuAsnMetGlnSerLeuGlyLeuTrpThrTrpAspCysLeuGlnGlyHisTrpAlaProLeuIleHisLeuAsnSerGlyProProSerGlyAlaMetGluArgSerProThrTrpGlyGluAlaAlaGluLeuTrpGlySerHisIleLeuLeuProPheArgIleArgHisLysGlnThrLeuPheAlaSerLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042625" }, { "coordinates": [ { "allele": "T", "end": 400, "referenceAllele": "G", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516185.1:c.385G>T" ], "proteinEffect": { "hgvs": "XP_011514487.1:p.Glu129Ter", "hgvsWellDefined": "XP_011514487.1:p.Glu130_Ser1059delinsArgArgAlaLeuValGlyProGlySerProProArgSerAlaProGlyGlnLeuProSerProArgAlaHisSerLeuAsnProAspAlaSerGlySerSerCysSerLeuAlaArgThrArgSerArgGluSerCysAlaSerValArgArgAlaSerSerAlaAspAspIleGluAlaMetArgAlaGlyValLeuProProProProArgHisAlaSerThrGlyAlaMetHisProLeuArgSerGlyLeuLeuAsnSerThrSerAspSerAspLeuValArgTyrArgThrIleSerLysIleProGlnIleThrLeuAsnPheValAspLeuLysGlyAspProPheLeuAlaSerProThrSerAspArgGluIleIleAlaProLysIleLysGluArgThrHisAsnValThrGluLysValThrGlnValLeuSerLeuGlyAlaAspValLeuProGluTyrLysLeuGlnAlaProArgIleHisArgTrpThrIleLeuHisTyrSerProPheLysAlaValTrpAspTrpLeuIleLeuLeuLeuValIleTyrThrAlaValPheThrProTyrSerAlaAlaPheLeuLeuLysGluThrGluGluGlyProProAlaThrGluCysGlyTyrAlaCysGlnProLeuAlaValValAspLeuIleValAspIleMetPheIleValAspIleLeuIleAsnPheArgThrThrTyrValAsnAlaAsnGluGluValValSerHisProGlyArgIleAlaValHisTyrPheLysGlyTrpPheLeuIleAspMetValAlaAlaIleProPheAspLeuLeuIlePheGlySerGlySerGluGluLeuIleGlyLeuLeuLysThrAlaArgLeuLeuArgLeuValArgValAlaArgLysLeuAspArgTyrSerGluTyrGlyAlaAlaValLeuPheLeuLeuMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083388" }, { "coordinates": [ { "allele": "T", "end": 1073, "referenceAllele": "G", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516186.1:c.685G>T" ], "proteinEffect": { "hgvs": "XP_011514488.1:p.Glu229Ter", "hgvsWellDefined": "XP_011514488.1:p.Glu230_Pro910delinsArgArgAlaLeuValGlyProGlySerProProArgSerAlaProGlyGlnLeuProSerProArgAlaHisSerLeuAsnProAspAlaSerGlySerSerCysSerLeuAlaArgThrArgSerArgGluSerCysAlaSerValArgArgAlaSerSerAlaAspAspIleGluAlaMetArgAlaGlyValLeuProProProProArgHisAlaSerThrGlyAlaMetHisProLeuArgSerGlyLeuLeuAsnSerThrSerAspSerAspLeuValArgTyrArgThrIleSerLysIleProGlnIleThrLeuAsnPheValAspLeuLysGlyAspProPheLeuAlaSerProThrSerAspArgGluIleIleAlaProLysIleLysGluArgThrHisAsnValThrGluLysValThrGlnValLeuSerLeuGlyAlaAspValLeuProGluTyrLysLeuGlnAlaProArgIleHisArgTrpThrIleLeuHisTyrSerProPheLysAlaValTrpAspTrpLeuIleLeuLeuLeuValIleTyrThrAlaValPheThrProTyrSerAlaAlaPheLeuLeuLysGluThrGluGluGlyProProAlaThrGluCysGlyTyrAlaCysGlnProLeuAlaValValAspLeuIleValAspIleMetPheIleValAspIleLeuIleAsnPheArgThrThrTyrValAsnAlaAsnGluGluValValSerHisProGlyArgIleAlaValHisTyrPheLysGlyTrpPheLeuIleAspMetValAlaAlaIleProPheAspLeuLeuIlePheGlySerGlySerGluGluLeuIleGlyLeuLeuLysThrAlaArgLeuLeuArgLeuValArgValAlaArgLysLeuAspArgTyrSerGluTyrGlyAlaAlaValLeuPheLeuLeuMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAlaProGlyProProGluSerArgArgValGlySerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083389" }, { "coordinates": [ { "allele": "T", "end": 497, "referenceAllele": "G", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516185.2:c.385G>T" ], "proteinEffect": { "hgvs": "XP_011514487.1:p.Glu129Ter", "hgvsWellDefined": "XP_011514487.1:p.Glu130_Ser1059delinsArgArgAlaLeuValGlyProGlySerProProArgSerAlaProGlyGlnLeuProSerProArgAlaHisSerLeuAsnProAspAlaSerGlySerSerCysSerLeuAlaArgThrArgSerArgGluSerCysAlaSerValArgArgAlaSerSerAlaAspAspIleGluAlaMetArgAlaGlyValLeuProProProProArgHisAlaSerThrGlyAlaMetHisProLeuArgSerGlyLeuLeuAsnSerThrSerAspSerAspLeuValArgTyrArgThrIleSerLysIleProGlnIleThrLeuAsnPheValAspLeuLysGlyAspProPheLeuAlaSerProThrSerAspArgGluIleIleAlaProLysIleLysGluArgThrHisAsnValThrGluLysValThrGlnValLeuSerLeuGlyAlaAspValLeuProGluTyrLysLeuGlnAlaProArgIleHisArgTrpThrIleLeuHisTyrSerProPheLysAlaValTrpAspTrpLeuIleLeuLeuLeuValIleTyrThrAlaValPheThrProTyrSerAlaAlaPheLeuLeuLysGluThrGluGluGlyProProAlaThrGluCysGlyTyrAlaCysGlnProLeuAlaValValAspLeuIleValAspIleMetPheIleValAspIleLeuIleAsnPheArgThrThrTyrValAsnAlaAsnGluGluValValSerHisProGlyArgIleAlaValHisTyrPheLysGlyTrpPheLeuIleAspMetValAlaAlaIleProPheAspLeuLeuIlePheGlySerGlySerGluGluLeuIleGlyLeuLeuLysThrAlaArgLeuLeuArgLeuValArgValAlaArgLysLeuAspArgTyrSerGluTyrGlyAlaAlaValLeuPheLeuLeuMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544060" }, { "coordinates": [ { "allele": "T", "end": 759, "referenceAllele": "G", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516186.3:c.685G>T" ], "proteinEffect": { "hgvs": "XP_011514488.1:p.Glu229Ter", "hgvsWellDefined": "XP_011514488.1:p.Glu230_Pro910delinsArgArgAlaLeuValGlyProGlySerProProArgSerAlaProGlyGlnLeuProSerProArgAlaHisSerLeuAsnProAspAlaSerGlySerSerCysSerLeuAlaArgThrArgSerArgGluSerCysAlaSerValArgArgAlaSerSerAlaAspAspIleGluAlaMetArgAlaGlyValLeuProProProProArgHisAlaSerThrGlyAlaMetHisProLeuArgSerGlyLeuLeuAsnSerThrSerAspSerAspLeuValArgTyrArgThrIleSerLysIleProGlnIleThrLeuAsnPheValAspLeuLysGlyAspProPheLeuAlaSerProThrSerAspArgGluIleIleAlaProLysIleLysGluArgThrHisAsnValThrGluLysValThrGlnValLeuSerLeuGlyAlaAspValLeuProGluTyrLysLeuGlnAlaProArgIleHisArgTrpThrIleLeuHisTyrSerProPheLysAlaValTrpAspTrpLeuIleLeuLeuLeuValIleTyrThrAlaValPheThrProTyrSerAlaAlaPheLeuLeuLysGluThrGluGluGlyProProAlaThrGluCysGlyTyrAlaCysGlnProLeuAlaValValAspLeuIleValAspIleMetPheIleValAspIleLeuIleAsnPheArgThrThrTyrValAsnAlaAsnGluGluValValSerHisProGlyArgIleAlaValHisTyrPheLysGlyTrpPheLeuIleAspMetValAlaAlaIleProPheAspLeuLeuIlePheGlySerGlySerGluGluLeuIleGlyLeuLeuLysThrAlaArgLeuLeuArgLeuValArgValAlaArgLysLeuAspArgTyrSerGluTyrGlyAlaAlaValLeuPheLeuLeuMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAlaProGlyProProGluSerArgArgValGlySerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544061" }, { "coordinates": [ { "allele": "T", "end": 1167, "referenceAllele": "G", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_017012195.1:c.535G>T" ], "proteinEffect": { "hgvs": "XP_016867684.1:p.Glu179Ter", "hgvsWellDefined": "XP_016867684.1:p.Glu180_Ser1109delinsArgArgAlaLeuValGlyProGlySerProProArgSerAlaProGlyGlnLeuProSerProArgAlaHisSerLeuAsnProAspAlaSerGlySerSerCysSerLeuAlaArgThrArgSerArgGluSerCysAlaSerValArgArgAlaSerSerAlaAspAspIleGluAlaMetArgAlaGlyValLeuProProProProArgHisAlaSerThrGlyAlaMetHisProLeuArgSerGlyLeuLeuAsnSerThrSerAspSerAspLeuValArgTyrArgThrIleSerLysIleProGlnIleThrLeuAsnPheValAspLeuLysGlyAspProPheLeuAlaSerProThrSerAspArgGluIleIleAlaProLysIleLysGluArgThrHisAsnValThrGluLysValThrGlnValLeuSerLeuGlyAlaAspValLeuProGluTyrLysLeuGlnAlaProArgIleHisArgTrpThrIleLeuHisTyrSerProPheLysAlaValTrpAspTrpLeuIleLeuLeuLeuValIleTyrThrAlaValPheThrProTyrSerAlaAlaPheLeuLeuLysGluThrGluGluGlyProProAlaThrGluCysGlyTyrAlaCysGlnProLeuAlaValValAspLeuIleValAspIleMetPheIleValAspIleLeuIleAsnPheArgThrThrTyrValAsnAlaAsnGluGluValValSerHisProGlyArgIleAlaValHisTyrPheLysGlyTrpPheLeuIleAspMetValAlaAlaIleProPheAspLeuLeuIlePheGlySerGlySerGluGluLeuIleGlyLeuLeuLysThrAlaArgLeuLeuArgLeuValArgValAlaArgLysLeuAspArgTyrSerGluTyrGlyAlaAlaValLeuPheLeuLeuMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565851" }, { "coordinates": [ { "allele": "T", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_017012196.1:c.508G>T" ], "proteinEffect": { "hgvs": "XP_016867685.1:p.Glu170Ter", "hgvsWellDefined": "XP_016867685.1:p.Glu171_Ser1100delinsArgArgAlaLeuValGlyProGlySerProProArgSerAlaProGlyGlnLeuProSerProArgAlaHisSerLeuAsnProAspAlaSerGlySerSerCysSerLeuAlaArgThrArgSerArgGluSerCysAlaSerValArgArgAlaSerSerAlaAspAspIleGluAlaMetArgAlaGlyValLeuProProProProArgHisAlaSerThrGlyAlaMetHisProLeuArgSerGlyLeuLeuAsnSerThrSerAspSerAspLeuValArgTyrArgThrIleSerLysIleProGlnIleThrLeuAsnPheValAspLeuLysGlyAspProPheLeuAlaSerProThrSerAspArgGluIleIleAlaProLysIleLysGluArgThrHisAsnValThrGluLysValThrGlnValLeuSerLeuGlyAlaAspValLeuProGluTyrLysLeuGlnAlaProArgIleHisArgTrpThrIleLeuHisTyrSerProPheLysAlaValTrpAspTrpLeuIleLeuLeuLeuValIleTyrThrAlaValPheThrProTyrSerAlaAlaPheLeuLeuLysGluThrGluGluGlyProProAlaThrGluCysGlyTyrAlaCysGlnProLeuAlaValValAspLeuIleValAspIleMetPheIleValAspIleLeuIleAsnPheArgThrThrTyrValAsnAlaAsnGluGluValValSerHisProGlyArgIleAlaValHisTyrPheLysGlyTrpPheLeuIleAspMetValAlaAlaIleProPheAspLeuLeuIlePheGlySerGlySerGluGluLeuIleGlyLeuLeuLysThrAlaArgLeuLeuArgLeuValArgValAlaArgLysLeuAspArgTyrSerGluTyrGlyAlaAlaValLeuPheLeuLeuMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565852" }, { "@id": "http://reg.genome.network/allele/PA346379", "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "G", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_000238.4:c.685G>T" ], "proteinEffect": { "hgvs": "NP_000229.1:p.Glu229Ter", "hgvsWellDefined": "NP_000229.1:p.Glu230_Ser1159delinsArgArgAlaLeuValGlyProGlySerProProArgSerAlaProGlyGlnLeuProSerProArgAlaHisSerLeuAsnProAspAlaSerGlySerSerCysSerLeuAlaArgThrArgSerArgGluSerCysAlaSerValArgArgAlaSerSerAlaAspAspIleGluAlaMetArgAlaGlyValLeuProProProProArgHisAlaSerThrGlyAlaMetHisProLeuArgSerGlyLeuLeuAsnSerThrSerAspSerAspLeuValArgTyrArgThrIleSerLysIleProGlnIleThrLeuAsnPheValAspLeuLysGlyAspProPheLeuAlaSerProThrSerAspArgGluIleIleAlaProLysIleLysGluArgThrHisAsnValThrGluLysValThrGlnValLeuSerLeuGlyAlaAspValLeuProGluTyrLysLeuGlnAlaProArgIleHisArgTrpThrIleLeuHisTyrSerProPheLysAlaValTrpAspTrpLeuIleLeuLeuLeuValIleTyrThrAlaValPheThrProTyrSerAlaAlaPheLeuLeuLysGluThrGluGluGlyProProAlaThrGluCysGlyTyrAlaCysGlnProLeuAlaValValAspLeuIleValAspIleMetPheIleValAspIleLeuIleAsnPheArgThrThrTyrValAsnAlaAsnGluGluValValSerHisProGlyArgIleAlaValHisTyrPheLysGlyTrpPheLeuIleAspMetValAlaAlaIleProPheAspLeuLeuIlePheGlySerGlySerGluGluLeuIleGlyLeuLeuLysThrAlaArgLeuLeuArgLeuValArgValAlaArgLysLeuAspArgTyrSerGluTyrGlyAlaAlaValLeuPheLeuLeuMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674756", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262186.10:c.685G>T" }, "RefSeq": { "hgvs": "NM_000238.4:c.685G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262186.5:p.Glu229Ter" }, "RefSeq": { "hgvs": "NP_000229.1:p.Glu229Ter" } } } } ], "type": "nucleotide" }