{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16618406", "communityStandardTitle": [ "NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407058[alleleid]", "alleleId": 407058, "preferredName": "NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/420923", "RCV": [ "RCV000481174", "RCV000631681", "RCV003168953" ], "variationId": 420923 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.150648071G>A?assembly=hg19", "id": "chr7:g.150648071G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.150950983G>A?assembly=hg38", "id": "chr7:g.150950983G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794793", "rs": 1064794793 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 150950983, "referenceAllele": "G", "start": 150950982 } ], "hgvs": [ "NC_000007.14:g.150950983G>A", "CM000669.2:g.150950983G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 150648071, "referenceAllele": "G", "start": 150648070 } ], "hgvs": [ "NC_000007.13:g.150648071G>A", "CM000669.1:g.150648071G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 150279004, "referenceAllele": "G", "start": 150279003 } ], "hgvs": [ "NC_000007.12:g.150279004G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 31944, "referenceAllele": "C", "start": 31943 } ], "hgvs": [ "NG_008916.1:g.31944C>T", "LRG_288:g.31944C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001295" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1381, "referenceAllele": "C", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000461280.2:n.1381C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825113" }, { "coordinates": [ { "allele": "T", "end": 207, "referenceAllele": "C", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000683359.1:n.207C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828339" }, { "coordinates": [ { "allele": "T", "end": 2916, "referenceAllele": "C", "start": 2915 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000684241.1:n.2916C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829198" }, { "coordinates": [ { "allele": "T", "end": 2491, "referenceAllele": "C", "start": 2490 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000262186.10:c.2083C>T" ], "proteinEffect": { "hgvs": "ENSP00000262186.5:p.Gln695Ter", "hgvsWellDefined": "ENSP00000262186.5:p.Gln695_Ser1159delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742291", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262186.10:c.2083C>T" }, "RefSeq": { "hgvs": "NM_000238.4:c.2083C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262186.5:p.Gln695Ter" }, "RefSeq": { "hgvs": "NP_000229.1:p.Gln695Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "C", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000330883.9:c.1063C>T" ], "proteinEffect": { "hgvs": "ENSP00000328531.4:p.Gln355Ter", "hgvsWellDefined": "ENSP00000328531.4:p.Gln355_Ser819delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747106" }, { "coordinates": [ { "allele": "T", "end": 2485, "referenceAllele": "C", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000262186.9:c.2083C>T" ], "proteinEffect": { "hgvs": "ENSP00000262186.5:p.Gln695Ter", "hgvsWellDefined": "ENSP00000262186.5:p.Gln695_Ser1159delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247143" }, { "coordinates": [ { "allele": "T", "end": 1466, "referenceAllele": "C", "start": 1465 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000330883.8:c.1063C>T" ], "proteinEffect": { "hgvs": "ENSP00000328531.4:p.Gln355Ter", "hgvsWellDefined": "ENSP00000328531.4:p.Gln355_Ser819delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247395" }, { "coordinates": [ { "allele": "T", "end": 2064, "referenceAllele": "C", "start": 2063 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000430723.4:c.1735C>T" ], "proteinEffect": { "hgvs": "ENSP00000387657.4:p.Gln579Ter", "hgvsWellDefined": "ENSP00000387657.4:p.Gln579_Lys772delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyMetGlyTrpGlyAlaGlyThrGlyLeuGluMetProSerAlaAlaSerArgGlyAlaSerLeuLeuAsnMetGlnSerLeuGlyLeuTrpThrTrpAspCysLeuGlnGlyHisTrpAlaProLeuIleHisLeuAsnSerGlyProProSerGlyAlaMetGluArgSerProThrTrpGlyGluAlaAlaGluLeuTrpGlySerHisIleLeuLeuProPheArgIleArgHisLysGlnThrLeuPheAlaSerLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247335" }, { "coordinates": [ { "allele": "T", "end": 1370, "referenceAllele": "C", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000461280.1:n.1370C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS305827" }, { "coordinates": [ { "allele": "T", "end": 1715, "referenceAllele": "C", "start": 1714 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000473610.5:n.1715C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS315313" }, { "coordinates": [ { "allele": "T", "end": 2306, "referenceAllele": "C", "start": 2305 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000532957.5:n.2306C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS357796" }, { "@id": "http://reg.genome.network/allele/PA2825099077", "coordinates": [ { "allele": "T", "end": 2484, "referenceAllele": "C", "start": 2483 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_000238.3:c.2083C>T", "LRG_288t1:c.2083C>T" ], "proteinEffect": { "hgvs": "NP_000229.1:p.Gln695Ter", "hgvsWellDefined": "NP_000229.1:p.Gln695_Ser1159delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006301" }, { "@id": "http://reg.genome.network/allele/PA2826275331", "coordinates": [ { "allele": "T", "end": 1389, "referenceAllele": "C", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_001204798.1:c.1063C>T" ], "proteinEffect": { "hgvs": "NP_001191727.1:p.Gln355Ter", "hgvsWellDefined": "NP_001191727.1:p.Gln355_Lys548delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyMetGlyTrpGlyAlaGlyThrGlyLeuGluMetProSerAlaAlaSerArgGlyAlaSerLeuLeuAsnMetGlnSerLeuGlyLeuTrpThrTrpAspCysLeuGlnGlyHisTrpAlaProLeuIleHisLeuAsnSerGlyProProSerGlyAlaMetGluArgSerProThrTrpGlyGluAlaAlaGluLeuTrpGlySerHisIleLeuLeuProPheArgIleArgHisLysGlnThrLeuPheAlaSerLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017691" }, { "@id": "http://reg.genome.network/allele/PA645443739", "coordinates": [ { "allele": "T", "end": 2484, "referenceAllele": "C", "start": 2483 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172056.2:c.2083C>T", "LRG_288t2:c.2083C>T" ], "proteinEffect": { "hgvs": "NP_742053.1:p.Gln695Ter", "hgvsWellDefined": "NP_742053.1:p.Gln695_Lys888delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyMetGlyTrpGlyAlaGlyThrGlyLeuGluMetProSerAlaAlaSerArgGlyAlaSerLeuLeuAsnMetGlnSerLeuGlyLeuTrpThrTrpAspCysLeuGlnGlyHisTrpAlaProLeuIleHisLeuAsnSerGlyProProSerGlyAlaMetGluArgSerProThrTrpGlyGluAlaAlaGluLeuTrpGlySerHisIleLeuLeuProPheArgIleArgHisLysGlnThrLeuPheAlaSerLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042625" }, { "@id": "http://reg.genome.network/allele/PA2830339783", "coordinates": [ { "allele": "T", "end": 1389, "referenceAllele": "C", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172057.2:c.1063C>T", "LRG_288t3:c.1063C>T" ], "proteinEffect": { "hgvs": "NP_742054.1:p.Gln355Ter", "hgvsWellDefined": "NP_742054.1:p.Gln355_Ser819delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042626" }, { "coordinates": [ { "allele": "T", "end": 1798, "referenceAllele": "C", "start": 1797 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516185.1:c.1783C>T" ], "proteinEffect": { "hgvs": "XP_011514487.1:p.Gln595Ter", "hgvsWellDefined": "XP_011514487.1:p.Gln595_Ser1059delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083388" }, { "coordinates": [ { "allele": "T", "end": 2471, "referenceAllele": "C", "start": 2470 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516186.1:c.2083C>T" ], "proteinEffect": { "hgvs": "XP_011514488.1:p.Gln695Ter", "hgvsWellDefined": "XP_011514488.1:p.Gln695_Pro910delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAlaProGlyProProGluSerArgArgValGlySerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083389" }, { "coordinates": [ { "allele": "T", "end": 1895, "referenceAllele": "C", "start": 1894 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516185.2:c.1783C>T" ], "proteinEffect": { "hgvs": "XP_011514487.1:p.Gln595Ter", "hgvsWellDefined": "XP_011514487.1:p.Gln595_Ser1059delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544060" }, { "coordinates": [ { "allele": "T", "end": 2157, "referenceAllele": "C", "start": 2156 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516186.3:c.2083C>T" ], "proteinEffect": { "hgvs": "XP_011514488.1:p.Gln695Ter", "hgvsWellDefined": "XP_011514488.1:p.Gln695_Pro910delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAlaProGlyProProGluSerArgArgValGlySerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544061" }, { "coordinates": [ { "allele": "T", "end": 2565, "referenceAllele": "C", "start": 2564 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_017012195.1:c.1933C>T" ], "proteinEffect": { "hgvs": "XP_016867684.1:p.Gln645Ter", "hgvsWellDefined": "XP_016867684.1:p.Gln645_Ser1109delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565851" }, { "coordinates": [ { "allele": "T", "end": 2025, "referenceAllele": "C", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_017012196.1:c.1906C>T" ], "proteinEffect": { "hgvs": "XP_016867685.1:p.Gln636Ter", "hgvsWellDefined": "XP_016867685.1:p.Gln636_Ser1100delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565852" }, { "@id": "http://reg.genome.network/allele/PA2825099077", "coordinates": [ { "allele": "T", "end": 2491, "referenceAllele": "C", "start": 2490 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_000238.4:c.2083C>T" ], "proteinEffect": { "hgvs": "NP_000229.1:p.Gln695Ter", "hgvsWellDefined": "NP_000229.1:p.Gln695_Ser1159delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674756", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262186.10:c.2083C>T" }, "RefSeq": { "hgvs": "NM_000238.4:c.2083C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262186.5:p.Gln695Ter" }, "RefSeq": { "hgvs": "NP_000229.1:p.Gln695Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826275331", "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "C", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_001204798.2:c.1063C>T" ], "proteinEffect": { "hgvs": "NP_001191727.1:p.Gln355Ter", "hgvsWellDefined": "NP_001191727.1:p.Gln355_Lys548delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyMetGlyTrpGlyAlaGlyThrGlyLeuGluMetProSerAlaAlaSerArgGlyAlaSerLeuLeuAsnMetGlnSerLeuGlyLeuTrpThrTrpAspCysLeuGlnGlyHisTrpAlaProLeuIleHisLeuAsnSerGlyProProSerGlyAlaMetGluArgSerProThrTrpGlyGluAlaAlaGluLeuTrpGlySerHisIleLeuLeuProPheArgIleArgHisLysGlnThrLeuPheAlaSerLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679869" }, { "@id": "http://reg.genome.network/allele/PA2830339783", "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "C", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172057.3:c.1063C>T" ], "proteinEffect": { "hgvs": "NP_742054.1:p.Gln355Ter", "hgvsWellDefined": "NP_742054.1:p.Gln355_Ser819delinsArgLeuGluGluTyrPheGlnHisAlaTrpSerTyrThrAsnGlyIleAspMetAsnAlaValLeuLysGlyPheProGluCysLeuGlnAlaAspIleCysLeuHisLeuAsnArgSerLeuLeuGlnHisCysLysProPheArgGlyAlaThrLysGlyCysLeuArgAlaLeuAlaMetLysPheLysThrThrHisAlaProProGlyAspThrLeuValHisAlaGlyAspLeuLeuThrAlaLeuTyrPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729522" } ], "type": "nucleotide" }