{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA369858923", "communityStandardTitle": [ "NM_000238.4(KCNH2):c.1655T>A (p.Leu552Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=635906[alleleid]", "alleleId": 635906, "preferredName": "NM_000238.4(KCNH2):c.1655T>A (p.Leu552Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/648088", "RCV": [ "RCV000802739", "RCV001551636" ], "variationId": 648088 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.150648826A>T?assembly=hg19", "id": "chr7:g.150648826A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.150951738A>T?assembly=hg38", "id": "chr7:g.150951738A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/199472918", "rs": 199472918 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 150951738, "referenceAllele": "A", "start": 150951737 } ], "hgvs": [ "NC_000007.14:g.150951738A>T", "CM000669.2:g.150951738A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 150648826, "referenceAllele": "A", "start": 150648825 } ], "hgvs": [ "NC_000007.13:g.150648826A>T", "CM000669.1:g.150648826A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 150279759, "referenceAllele": "A", "start": 150279758 } ], "hgvs": [ "NC_000007.12:g.150279759A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 31189, "referenceAllele": "T", "start": 31188 } ], "hgvs": [ "NG_008916.1:g.31189T>A", "LRG_288:g.31189T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001295" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "T", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000461280.2:n.953T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825113" }, { "coordinates": [ { "allele": "A", "end": 548, "referenceAllele": "T", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000684116.1:n.548T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829075" }, { "coordinates": [ { "allele": "A", "end": 2488, "referenceAllele": "T", "start": 2487 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000684241.1:n.2488T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829198" }, { "coordinates": [ { "allele": "A", "end": 2063, "referenceAllele": "T", "start": 2062 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000262186.10:c.1655T>A" ], "proteinEffect": { "hgvs": "ENSP00000262186.5:p.Leu552Ter", "hgvsWellDefined": "ENSP00000262186.5:p.Leu553_Ser1159delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742291", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262186.10:c.1655T>A" }, "RefSeq": { "hgvs": "NM_000238.4:c.1655T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262186.5:p.Leu552Ter" }, "RefSeq": { "hgvs": "NP_000229.1:p.Leu552Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 936, "referenceAllele": "T", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000330883.9:c.635T>A" ], "proteinEffect": { "hgvs": "ENSP00000328531.4:p.Leu212Ter", "hgvsWellDefined": "ENSP00000328531.4:p.Leu213_Ser819delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747106" }, { "coordinates": [ { "allele": "A", "end": 2057, "referenceAllele": "T", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000262186.9:c.1655T>A" ], "proteinEffect": { "hgvs": "ENSP00000262186.5:p.Leu552Ter", "hgvsWellDefined": "ENSP00000262186.5:p.Leu553_Ser1159delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247143" }, { "coordinates": [ { "allele": "A", "end": 1038, "referenceAllele": "T", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000330883.8:c.635T>A" ], "proteinEffect": { "hgvs": "ENSP00000328531.4:p.Leu212Ter", "hgvsWellDefined": "ENSP00000328531.4:p.Leu213_Ser819delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247395" }, { "coordinates": [ { "allele": "A", "end": 1636, "referenceAllele": "T", "start": 1635 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000430723.4:c.1307T>A" ], "proteinEffect": { "hgvs": "ENSP00000387657.4:p.Leu436Ter", "hgvsWellDefined": "ENSP00000387657.4:p.Leu437_Lys772delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyMetGlyTrpGlyAlaGlyThrGlyLeuGluMetProSerAlaAlaSerArgGlyAlaSerLeuLeuAsnMetGlnSerLeuGlyLeuTrpThrTrpAspCysLeuGlnGlyHisTrpAlaProLeuIleHisLeuAsnSerGlyProProSerGlyAlaMetGluArgSerProThrTrpGlyGluAlaAlaGluLeuTrpGlySerHisIleLeuLeuProPheArgIleArgHisLysGlnThrLeuPheAlaSerLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247335" }, { "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "T", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000461280.1:n.942T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS305827" }, { "coordinates": [ { "allele": "A", "end": 960, "referenceAllele": "T", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000473610.5:n.960T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS315313" }, { "coordinates": [ { "allele": "A", "end": 1878, "referenceAllele": "T", "start": 1877 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000532957.5:n.1878T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS357796" }, { "@id": "http://reg.genome.network/allele/PA2825098879", "coordinates": [ { "allele": "A", "end": 2056, "referenceAllele": "T", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_000238.3:c.1655T>A", "LRG_288t1:c.1655T>A" ], "proteinEffect": { "hgvs": "NP_000229.1:p.Leu552Ter", "hgvsWellDefined": "NP_000229.1:p.Leu553_Ser1159delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006301" }, { "@id": "http://reg.genome.network/allele/PA2826274978", "coordinates": [ { "allele": "A", "end": 961, "referenceAllele": "T", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_001204798.1:c.635T>A" ], "proteinEffect": { "hgvs": "NP_001191727.1:p.Leu212Ter", "hgvsWellDefined": "NP_001191727.1:p.Leu213_Lys548delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyMetGlyTrpGlyAlaGlyThrGlyLeuGluMetProSerAlaAlaSerArgGlyAlaSerLeuLeuAsnMetGlnSerLeuGlyLeuTrpThrTrpAspCysLeuGlnGlyHisTrpAlaProLeuIleHisLeuAsnSerGlyProProSerGlyAlaMetGluArgSerProThrTrpGlyGluAlaAlaGluLeuTrpGlySerHisIleLeuLeuProPheArgIleArgHisLysGlnThrLeuPheAlaSerLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017691" }, { "@id": "http://reg.genome.network/allele/PA916061301", "coordinates": [ { "allele": "A", "end": 2056, "referenceAllele": "T", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172056.2:c.1655T>A", "LRG_288t2:c.1655T>A" ], "proteinEffect": { "hgvs": "NP_742053.1:p.Leu552Ter", "hgvsWellDefined": "NP_742053.1:p.Leu553_Lys888delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyMetGlyTrpGlyAlaGlyThrGlyLeuGluMetProSerAlaAlaSerArgGlyAlaSerLeuLeuAsnMetGlnSerLeuGlyLeuTrpThrTrpAspCysLeuGlnGlyHisTrpAlaProLeuIleHisLeuAsnSerGlyProProSerGlyAlaMetGluArgSerProThrTrpGlyGluAlaAlaGluLeuTrpGlySerHisIleLeuLeuProPheArgIleArgHisLysGlnThrLeuPheAlaSerLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042625" }, { "@id": "http://reg.genome.network/allele/PA2830339253", "coordinates": [ { "allele": "A", "end": 961, "referenceAllele": "T", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172057.2:c.635T>A", "LRG_288t3:c.635T>A" ], "proteinEffect": { "hgvs": "NP_742054.1:p.Leu212Ter", "hgvsWellDefined": "NP_742054.1:p.Leu213_Ser819delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042626" }, { "coordinates": [ { "allele": "A", "end": 1370, "referenceAllele": "T", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516185.1:c.1355T>A" ], "proteinEffect": { "hgvs": "XP_011514487.1:p.Leu452Ter", "hgvsWellDefined": "XP_011514487.1:p.Leu453_Ser1059delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083388" }, { "coordinates": [ { "allele": "A", "end": 2043, "referenceAllele": "T", "start": 2042 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516186.1:c.1655T>A" ], "proteinEffect": { "hgvs": "XP_011514488.1:p.Leu552Ter", "hgvsWellDefined": "XP_011514488.1:p.Leu553_Pro910delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAlaProGlyProProGluSerArgArgValGlySerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083389" }, { "coordinates": [ { "allele": "A", "end": 1467, "referenceAllele": "T", "start": 1466 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516185.2:c.1355T>A" ], "proteinEffect": { "hgvs": "XP_011514487.1:p.Leu452Ter", "hgvsWellDefined": "XP_011514487.1:p.Leu453_Ser1059delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544060" }, { "coordinates": [ { "allele": "A", "end": 1729, "referenceAllele": "T", "start": 1728 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516186.3:c.1655T>A" ], "proteinEffect": { "hgvs": "XP_011514488.1:p.Leu552Ter", "hgvsWellDefined": "XP_011514488.1:p.Leu553_Pro910delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAlaProGlyProProGluSerArgArgValGlySerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544061" }, { "coordinates": [ { "allele": "A", "end": 2137, "referenceAllele": "T", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_017012195.1:c.1505T>A" ], "proteinEffect": { "hgvs": "XP_016867684.1:p.Leu502Ter", "hgvsWellDefined": "XP_016867684.1:p.Leu503_Ser1109delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565851" }, { "coordinates": [ { "allele": "A", "end": 1597, "referenceAllele": "T", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_017012196.1:c.1478T>A" ], "proteinEffect": { "hgvs": "XP_016867685.1:p.Leu493Ter", "hgvsWellDefined": "XP_016867685.1:p.Leu494_Ser1100delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565852" }, { "@id": "http://reg.genome.network/allele/PA2825098879", "coordinates": [ { "allele": "A", "end": 2063, "referenceAllele": "T", "start": 2062 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_000238.4:c.1655T>A" ], "proteinEffect": { "hgvs": "NP_000229.1:p.Leu552Ter", "hgvsWellDefined": "NP_000229.1:p.Leu553_Ser1159delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674756", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262186.10:c.1655T>A" }, "RefSeq": { "hgvs": "NM_000238.4:c.1655T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262186.5:p.Leu552Ter" }, "RefSeq": { "hgvs": "NP_000229.1:p.Leu552Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826274978", "coordinates": [ { "allele": "A", "end": 936, "referenceAllele": "T", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_001204798.2:c.635T>A" ], "proteinEffect": { "hgvs": "NP_001191727.1:p.Leu212Ter", "hgvsWellDefined": "NP_001191727.1:p.Leu213_Lys548delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyMetGlyTrpGlyAlaGlyThrGlyLeuGluMetProSerAlaAlaSerArgGlyAlaSerLeuLeuAsnMetGlnSerLeuGlyLeuTrpThrTrpAspCysLeuGlnGlyHisTrpAlaProLeuIleHisLeuAsnSerGlyProProSerGlyAlaMetGluArgSerProThrTrpGlyGluAlaAlaGluLeuTrpGlySerHisIleLeuLeuProPheArgIleArgHisLysGlnThrLeuPheAlaSerLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679869" }, { "@id": "http://reg.genome.network/allele/PA2830339253", "coordinates": [ { "allele": "A", "end": 936, "referenceAllele": "T", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172057.3:c.635T>A" ], "proteinEffect": { "hgvs": "NP_742054.1:p.Leu212Ter", "hgvsWellDefined": "NP_742054.1:p.Leu213_Ser819delinsMetCysThrPheAlaLeuIleAlaHisTrpLeuAlaCysIleTrpTyrAlaIleGlyAsnMetGluGlnProHisMetAspSerArgIleGlyTrpLeuHisAsnLeuGlyAspGlnIleGlyLysProTyrAsnSerSerGlyLeuGlyGlyProSerIleLysAspLysTyrValThrAlaLeuTyrPheThrPheSerSerLeuThrSerValGlyPheGlyAsnValSerProAsnThrAsnSerGluLysIlePheSerIleCysValMetLeuIleGlySerLeuMetTyrAlaSerIlePheGlyAsnValSerAlaIleIleGlnArgLeuTyrSerGlyThrAlaArgTyrHisThrGlnMetLeuArgValArgGluPheIleArgPheHisGlnIleProAsnProLeuArgGlnArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729522" } ], "type": "nucleotide" }