{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA369856083", "communityStandardTitle": [ "NM_000238.4(KCNH2):c.2340C>G (p.Tyr780Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.150647314G>C?assembly=hg19", "id": "chr7:g.150647314G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.150950226G>C?assembly=hg38", "id": "chr7:g.150950226G>C" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "C", "end": 150950226, "referenceAllele": "G", "start": 150950225 } ], "hgvs": [ "NC_000007.14:g.150950226G>C", "CM000669.2:g.150950226G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "C", "end": 150647314, "referenceAllele": "G", "start": 150647313 } ], "hgvs": [ "NC_000007.13:g.150647314G>C", "CM000669.1:g.150647314G>C" ], 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}, "referenceSequence": "http://reg.genome.network/refseq/RS747106" }, { "coordinates": [ { "allele": "G", "end": 2742, "referenceAllele": "C", "start": 2741 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000262186.9:c.2340C>G" ], "proteinEffect": { "hgvs": "ENSP00000262186.5:p.Tyr780Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247143" }, { "coordinates": [ { "allele": "G", "end": 1723, "referenceAllele": "C", "start": 1722 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000330883.8:c.1320C>G" ], "proteinEffect": { "hgvs": "ENSP00000328531.4:p.Tyr440Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247395" }, { "coordinates": [ { "allele": "G", "end": 2321, "referenceAllele": "C", "start": 2320 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000430723.4:c.1992C>G" ], "proteinEffect": { "hgvs": "ENSP00000387657.4:p.Tyr664Ter", "hgvsWellDefined": "ENSP00000387657.4:p.Tyr664_Lys772delinsPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyMetGlyTrpGlyAlaGlyThrGlyLeuGluMetProSerAlaAlaSerArgGlyAlaSerLeuLeuAsnMetGlnSerLeuGlyLeuTrpThrTrpAspCysLeuGlnGlyHisTrpAlaProLeuIleHisLeuAsnSerGlyProProSerGlyAlaMetGluArgSerProThrTrpGlyGluAlaAlaGluLeuTrpGlySerHisIleLeuLeuProPheArgIleArgHisLysGlnThrLeuPheAlaSerLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247335" }, { "coordinates": [ { "allele": "G", "end": 1627, "referenceAllele": "C", "start": 1626 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000461280.1:n.1627C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS305827" }, { "coordinates": [ { "allele": "G", "end": 1972, "referenceAllele": "C", "start": 1971 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000473610.5:n.1972C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS315313" }, { "coordinates": [ { "allele": "G", "end": 2563, "referenceAllele": "C", "start": 2562 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000532957.5:n.2563C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS357796" }, { "@id": "http://reg.genome.network/allele/PA3057712975", "coordinates": [ { "allele": "G", "end": 2741, "referenceAllele": "C", "start": 2740 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_000238.3:c.2340C>G", "LRG_288t1:c.2340C>G" ], "proteinEffect": { "hgvs": "NP_000229.1:p.Tyr780Ter", "hgvsWellDefined": "NP_000229.1:p.Tyr780_Ser1159delinsPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006301" }, { "coordinates": [ { "allele": "G", "end": 1646, "referenceAllele": "C", "start": 1645 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_001204798.1:c.1320C>G" ], "proteinEffect": { "hgvs": "NP_001191727.1:p.Tyr440Ter", "hgvsWellDefined": "NP_001191727.1:p.Tyr440_Lys548delinsPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyMetGlyTrpGlyAlaGlyThrGlyLeuGluMetProSerAlaAlaSerArgGlyAlaSerLeuLeuAsnMetGlnSerLeuGlyLeuTrpThrTrpAspCysLeuGlnGlyHisTrpAlaProLeuIleHisLeuAsnSerGlyProProSerGlyAlaMetGluArgSerProThrTrpGlyGluAlaAlaGluLeuTrpGlySerHisIleLeuLeuProPheArgIleArgHisLysGlnThrLeuPheAlaSerLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017691" }, { "coordinates": [ { "allele": "G", "end": 2741, "referenceAllele": "C", "start": 2740 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172056.2:c.2340C>G", "LRG_288t2:c.2340C>G" ], "proteinEffect": { "hgvs": "NP_742053.1:p.Tyr780Ter", "hgvsWellDefined": "NP_742053.1:p.Tyr780_Lys888delinsPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyMetGlyTrpGlyAlaGlyThrGlyLeuGluMetProSerAlaAlaSerArgGlyAlaSerLeuLeuAsnMetGlnSerLeuGlyLeuTrpThrTrpAspCysLeuGlnGlyHisTrpAlaProLeuIleHisLeuAsnSerGlyProProSerGlyAlaMetGluArgSerProThrTrpGlyGluAlaAlaGluLeuTrpGlySerHisIleLeuLeuProPheArgIleArgHisLysGlnThrLeuPheAlaSerLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042625" }, { "coordinates": [ { "allele": "G", "end": 1646, "referenceAllele": "C", "start": 1645 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172057.2:c.1320C>G", "LRG_288t3:c.1320C>G" ], "proteinEffect": { "hgvs": "NP_742054.1:p.Tyr440Ter", "hgvsWellDefined": "NP_742054.1:p.Tyr440_Ser819delinsPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042626" }, { "coordinates": [ { "allele": "G", "end": 2055, "referenceAllele": "C", "start": 2054 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516185.1:c.2040C>G" ], "proteinEffect": { "hgvs": "XP_011514487.1:p.Tyr680Ter", "hgvsWellDefined": "XP_011514487.1:p.Tyr680_Ser1059delinsPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083388" }, { "coordinates": [ { "allele": "G", "end": 2728, "referenceAllele": "C", "start": 2727 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516186.1:c.2340C>G" ], "proteinEffect": { "hgvs": "XP_011514488.1:p.Tyr780Ter", "hgvsWellDefined": "XP_011514488.1:p.Tyr780_Pro910delinsPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAlaProGlyProProGluSerArgArgValGlySerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083389" }, { "coordinates": [ { "allele": "G", "end": 2152, "referenceAllele": "C", "start": 2151 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516185.2:c.2040C>G" ], "proteinEffect": { "hgvs": "XP_011514487.1:p.Tyr680Ter", "hgvsWellDefined": "XP_011514487.1:p.Tyr680_Ser1059delinsPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544060" }, { "coordinates": [ { "allele": "G", "end": 2414, "referenceAllele": "C", "start": 2413 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516186.3:c.2340C>G" ], "proteinEffect": { "hgvs": "XP_011514488.1:p.Tyr780Ter", "hgvsWellDefined": "XP_011514488.1:p.Tyr780_Pro910delinsPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAlaProGlyProProGluSerArgArgValGlySerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544061" }, { "coordinates": [ { "allele": "G", "end": 2822, "referenceAllele": "C", "start": 2821 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_017012195.1:c.2190C>G" ], "proteinEffect": { "hgvs": "XP_016867684.1:p.Tyr730Ter", "hgvsWellDefined": "XP_016867684.1:p.Tyr730_Ser1109delinsPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565851" }, { "coordinates": [ { "allele": "G", "end": 2282, "referenceAllele": "C", "start": 2281 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_017012196.1:c.2163C>G" ], "proteinEffect": { "hgvs": "XP_016867685.1:p.Tyr721Ter", "hgvsWellDefined": "XP_016867685.1:p.Tyr721_Ser1100delinsPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565852" }, { "@id": "http://reg.genome.network/allele/PA3057712975", "coordinates": [ { "allele": "G", "end": 2748, "referenceAllele": "C", "start": 2747 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_000238.4:c.2340C>G" ], "proteinEffect": { "hgvs": "NP_000229.1:p.Tyr780Ter", "hgvsWellDefined": "NP_000229.1:p.Tyr780_Ser1159delinsPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674756", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262186.10:c.2340C>G" }, "RefSeq": { "hgvs": "NM_000238.4:c.2340C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262186.5:p.Tyr780Ter" }, "RefSeq": { "hgvs": "NP_000229.1:p.Tyr780Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1621, "referenceAllele": "C", "start": 1620 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_001204798.2:c.1320C>G" ], "proteinEffect": { "hgvs": "NP_001191727.1:p.Tyr440Ter", "hgvsWellDefined": "NP_001191727.1:p.Tyr440_Lys548delinsPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyMetGlyTrpGlyAlaGlyThrGlyLeuGluMetProSerAlaAlaSerArgGlyAlaSerLeuLeuAsnMetGlnSerLeuGlyLeuTrpThrTrpAspCysLeuGlnGlyHisTrpAlaProLeuIleHisLeuAsnSerGlyProProSerGlyAlaMetGluArgSerProThrTrpGlyGluAlaAlaGluLeuTrpGlySerHisIleLeuLeuProPheArgIleArgHisLysGlnThrLeuPheAlaSerLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679869" }, { "coordinates": [ { "allele": "G", "end": 1621, "referenceAllele": "C", "start": 1620 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172057.3:c.1320C>G" ], "proteinEffect": { "hgvs": "NP_742054.1:p.Tyr440Ter", "hgvsWellDefined": "NP_742054.1:p.Tyr440_Ser819delinsPheIleSerArgGlySerIleGluIleLeuArgGlyAspValValValAlaIleLeuGlyLysAsnAspIlePheGlyGluProLeuAsnLeuTyrAlaArgProGlyLysSerAsnGlyAspValArgAlaLeuThrTyrCysAspLeuHisLysIleHisArgAspAspLeuLeuGluValLeuAspMetTyrProGluPheSerAspHisPheTrpSerSerLeuGluIleThrPheAsnLeuArgAspThrAsnMetIleProGlySerProGlySerThrGluLeuGluGlyGlyPheSerArgGlnArgLysArgLysLeuSerPheArgArgArgThrAspLysAspThrGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGlyProSerSerArgGlyArgProGlyGlyProTrpGlyGluSerProSerSerGlyProSerSerProGluSerSerGluAspGluGlyProGlyArgSerSerSerProLeuArgLeuValProPheSerSerProArgProProGlyGluProProGlyGlyGluProLeuMetGluAspCysGluLysSerSerAspThrCysAsnProLeuSerGlyAlaPheSerGlyValSerAsnIlePheSerPheTrpGlyAspSerArgGlyArgGlnTyrGlnGluLeuProArgCysProAlaProThrProSerLeuLeuAsnIleProLeuSerSerProGlyArgArgProArgGlyAspValGluSerArgLeuAspAlaLeuGlnArgGlnLeuAsnArgLeuGluThrArgLeuSerAlaAspMetAlaThrValLeuGlnLeuLeuGlnArgGlnMetThrLeuValProProAlaTyrSerAlaValThrThrProGlyProGlyProThrSerThrSerProLeuLeuProValSerProLeuProThrLeuThrLeuAspSerLeuSerGlnValSerGlnPheMetAlaCysGluGluLeuProProGlyAlaProGluLeuProGlnGluGlyProThrArgArgLeuSerLeuProGlyGlnLeuGlyAlaLeuThrSerGlnProLeuHisArgHisGlySerAspProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729522" } ], "type": "nucleotide" }