{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA342540", "communityStandardTitle": [ "NM_172107.4(KCNQ2):c.967C>T (p.Gln323Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34660[alleleid]", "alleleId": 34660, "preferredName": "NM_172107.4(KCNQ2):c.967C>T (p.Gln323Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21808", "RCV": [ "RCV000678100" ], "variationId": 21808 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.62070034G>A?assembly=hg19", "id": "chr20:g.62070034G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.63438681G>A?assembly=hg38", "id": "chr20:g.63438681G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/118192214", "rs": 118192214 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 63438681, "referenceAllele": "G", "start": 63438680 } ], "hgvs": [ "NC_000020.11:g.63438681G>A", "CM000682.2:g.63438681G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 62070034, "referenceAllele": "G", "start": 62070033 } ], "hgvs": [ "NC_000020.10:g.62070034G>A", "CM000682.1:g.62070034G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 61540478, "referenceAllele": "G", "start": 61540477 } ], "hgvs": [ "NC_000020.9:g.61540478G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 38960, "referenceAllele": "C", "start": 38959 } ], "hgvs": [ "NG_009004.1:g.38960C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001372" }, { "coordinates": [ { "allele": "T", "end": 38960, "referenceAllele": "C", "start": 38959 } ], "hgvs": [ "NG_009004.2:g.38960C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616122" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000706989.1:c.967C>T" ], "proteinEffect": { "hgvs": "ENSP00000516702.1:p.Gln323Ter", "hgvsWellDefined": "ENSP00000516702.1:p.Gln323_Lys890delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS913294" }, { "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000344425.8:c.967C>T" ], "proteinEffect": { "hgvs": "ENSP00000345523.5:p.Gln323Ter", "hgvsWellDefined": "ENSP00000345523.5:p.Gln323_Ser393delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrArgTyrArgArgArgAlaProAlaThrLysGlnLeuPheHisPheLeuPheSerIleCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824037" }, { "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000359125.7:c.967C>T" ], "proteinEffect": { "hgvs": "ENSP00000352035.2:p.Gln323Ter", "hgvsWellDefined": "ENSP00000352035.2:p.Gln323_Lys872delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749156", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359125.7:c.967C>T" }, "RefSeq": { "hgvs": "NM_172107.4:c.967C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352035.2:p.Gln323Ter" }, "RefSeq": { "hgvs": "NP_742105.1:p.Gln323Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 705, "referenceAllele": "C", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000636255.1:n.705C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS762990" }, { "coordinates": [ { "allele": "T", "end": 850, "referenceAllele": "C", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000637193.1:c.448C>T" ], "proteinEffect": { "hgvs": "ENSP00000490734.1:p.Gln150Ter", "hgvsWellDefined": "ENSP00000490734.1:p.Gln150_Lys671delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763682" }, { "coordinates": [ { "allele": "T", "end": 1144, "referenceAllele": "C", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000344425.7:c.967C>T" ], "proteinEffect": { "hgvs": "ENSP00000345523.5:p.Gln323Ter", "hgvsWellDefined": "ENSP00000345523.5:p.Gln323_Ser393delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrArgTyrArgArgArgAlaProAlaThrLysGlnLeuPheHisPheLeuPheSerIleCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261975" }, { "coordinates": [ { "allele": "T", "end": 1013, "referenceAllele": "C", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000344462.8:c.967C>T" ], "proteinEffect": { "hgvs": "ENSP00000339611.4:p.Gln323Ter", "hgvsWellDefined": "ENSP00000339611.4:p.Gln323_Lys841delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261982" }, { "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000357249.6:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000349789.3:p.Gln209Ter", "hgvsWellDefined": "ENSP00000349789.3:p.Gln209_Lys728delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264035" }, { "coordinates": [ { "allele": "T", "end": 1094, "referenceAllele": "C", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000359125.6:c.967C>T" ], "proteinEffect": { "hgvs": "ENSP00000352035.2:p.Gln323Ter", "hgvsWellDefined": "ENSP00000352035.2:p.Gln323_Lys872delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264683" }, { "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "C", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000360480.7:c.967C>T" ], "proteinEffect": { "hgvs": "ENSP00000353668.3:p.Gln323Ter", "hgvsWellDefined": "ENSP00000353668.3:p.Gln323_Lys844delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265147" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000370221.3:n.1093C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS267943" }, { "coordinates": [ { "allele": "T", "end": 1102, "referenceAllele": "C", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000370224.5:c.967C>T" ], "proteinEffect": { "hgvs": "ENSP00000359244.2:p.Gln323Ter", "hgvsWellDefined": "ENSP00000359244.2:p.Gln323_His766delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuGlyArgAlaProGluThrArgAlaGlyGlnGluGlySerHisGlyGlyValSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267945" }, { "coordinates": [ { "allele": "T", "end": 1059, "referenceAllele": "C", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000625514.2:c.967C>T" ], "proteinEffect": { "hgvs": "ENSP00000486040.1:p.Gln323Ter", "hgvsWellDefined": "ENSP00000486040.1:p.Gln323_His754delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuGlyArgAlaProGluThrArgAlaGlyGlnGluGlySerHisGlyGlyValSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406588" }, { "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000626684.1:c.332C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS406770" }, { "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000626839.2:c.967C>T" ], "proteinEffect": { "hgvs": "ENSP00000486706.1:p.Gln323Ter", "hgvsWellDefined": "ENSP00000486706.1:p.Gln323_Lys854delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406799" }, { "coordinates": [ { "allele": "T", "end": 111, "referenceAllele": "C", "start": 110 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000627221.2:c.111C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS406856" }, { "coordinates": [ { "allele": "T", "end": 1059, "referenceAllele": "C", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000629241.2:c.967C>T" ], "proteinEffect": { "hgvs": "ENSP00000487142.1:p.Gln323Ter", "hgvsWellDefined": "ENSP00000487142.1:p.Gln323_His730delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuGlyArgAlaProGluThrArgAlaGlyGlnGluGlySerHisGlyGlyValSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407190" }, { "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000629498.2:c.440C>T" ], "proteinEffect": { "hgvs": "ENSP00000486509.1:p.Ala147Val", "hgvsWellDefined": "ENSP00000486509.1:p.Ala147Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS407232" }, { "coordinates": [ { "allele": "T", "end": 1059, "referenceAllele": "C", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000629676.2:c.967C>T" ], "proteinEffect": { "hgvs": "ENSP00000486194.1:p.Gln323Ter", "hgvsWellDefined": "ENSP00000486194.1:p.Gln323_Ser645delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgAspGlyLeuGlnArgHisAlaGlnGlyArgArgGlyLeuThrGluGlySerArgThrGluAlaProArgAlaGlyGlyProAlaGlyArgHisProSerAlaArgAspProHisGlyProArgValProAlaMetProAlaProHisAlaIleAlaValCysHisProLeuAlaValThrValAlaAlaAlaSerProPheAlaProLeuProLeuAlaValCysThrPheValHisAlaProLysAsnIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407259" }, { "@id": "http://reg.genome.network/allele/PA2829530705", "coordinates": [ { "allele": "T", "end": 1144, "referenceAllele": "C", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_004518.4:c.967C>T" ], "proteinEffect": { "hgvs": "NP_004509.2:p.Gln323Ter", "hgvsWellDefined": "NP_004509.2:p.Gln323_Lys844delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029676" }, { "@id": "http://reg.genome.network/allele/PA2830344760", "coordinates": [ { "allele": "T", "end": 1144, "referenceAllele": "C", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172106.1:c.967C>T" ], "proteinEffect": { "hgvs": "NP_742104.1:p.Gln323Ter", "hgvsWellDefined": "NP_742104.1:p.Gln323_Lys854delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042648" }, { "@id": "http://reg.genome.network/allele/PA342541", "coordinates": [ { "allele": "T", "end": 1144, "referenceAllele": "C", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172107.2:c.967C>T" ], "proteinEffect": { "hgvs": "NP_742105.1:p.Gln323Ter", "hgvsWellDefined": "NP_742105.1:p.Gln323_Lys872delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042649" }, { "@id": "http://reg.genome.network/allele/PA2830346868", "coordinates": [ { "allele": "T", "end": 1144, "referenceAllele": "C", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172108.3:c.967C>T" ], "proteinEffect": { "hgvs": "NP_742106.1:p.Gln323Ter", "hgvsWellDefined": "NP_742106.1:p.Gln323_Lys841delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042650" }, { "@id": "http://reg.genome.network/allele/PA916062627", "coordinates": [ { "allele": "T", "end": 1144, "referenceAllele": "C", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172109.1:c.967C>T" ], "proteinEffect": { "hgvs": "NP_742107.1:p.Gln323Ter", "hgvsWellDefined": "NP_742107.1:p.Gln323_Ser393delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrArgTyrArgArgArgAlaProAlaThrLysGlnLeuPheHisPheLeuPheSerIleCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042651" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_006723787.1:c.967C>T" ], "proteinEffect": { "hgvs": "XP_006723850.1:p.Gln323Ter", "hgvsWellDefined": "XP_006723850.1:p.Gln323_Lys886delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgGlnGluProArgLeuProValGlnGlnGlyThrArgThrGlyValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075200" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528807.1:c.967C>T" ], "proteinEffect": { "hgvs": "XP_011527109.1:p.Gln323Ter", "hgvsWellDefined": "XP_011527109.1:p.Gln323_Lys908delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095878" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528808.1:c.967C>T" ], "proteinEffect": { "hgvs": "XP_011527110.1:p.Gln323Ter", "hgvsWellDefined": "XP_011527110.1:p.Gln323_Lys907delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095879" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528809.1:c.967C>T" ], "proteinEffect": { "hgvs": "XP_011527111.1:p.Gln323Ter", "hgvsWellDefined": "XP_011527111.1:p.Gln323_Lys898delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095880" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528810.1:c.967C>T" ], "proteinEffect": { "hgvs": "XP_011527112.1:p.Gln323Ter", "hgvsWellDefined": "XP_011527112.1:p.Gln323_Lys890delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095881" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528811.1:c.967C>T" ], "proteinEffect": { "hgvs": "XP_011527113.1:p.Gln323Ter", "hgvsWellDefined": "XP_011527113.1:p.Gln323_Lys880delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095882" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528812.1:c.967C>T" ], "proteinEffect": { "hgvs": "XP_011527114.1:p.Gln323Ter", "hgvsWellDefined": "XP_011527114.1:p.Gln323_Lys871delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095883" }, { "coordinates": [ { "allele": "T", "end": 967, "referenceAllele": "C", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528813.1:c.841C>T" ], "proteinEffect": { "hgvs": "XP_011527115.1:p.Gln281Ter", "hgvsWellDefined": "XP_011527115.1:p.Gln281_Lys866delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095884" }, { "coordinates": [ { "allele": "T", "end": 1021, "referenceAllele": "C", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528814.1:c.448C>T" ], "proteinEffect": { "hgvs": "XP_011527116.1:p.Gln150Ter", "hgvsWellDefined": "XP_011527116.1:p.Gln150_Lys735delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095885" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528815.1:c.967C>T" ], "proteinEffect": { "hgvs": "XP_011527117.1:p.Gln323Ter", "hgvsWellDefined": "XP_011527117.1:p.Gln323_Ala682delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnGluProProGlnArgThrLeuValLeuGlyProAlaSerGluSerArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095886" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528816.1:c.967C>T" ], "proteinEffect": { "hgvs": "XP_011527118.1:p.Gln323Ter", "hgvsWellDefined": "XP_011527118.1:p.Gln323_Val448delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnHisArgLysThrLysGlnArgHisArgGluArgLysSerSerGlnAlaArgPheSerLeuThrTyrArgLeuMetProArgAlaGlyLeuSerProArgProGlyArgLeuGluAlaGluValProGlyProThrHisThrProSerAlaSerGlyCysProGlyProAsnGlnGluValArgLysValThrProArgThrGlyAspThrArgGlnGlyProGlyLysSerHisGluLysGluArgThrGlnProProCysGluLeuAlaGlnGlyProGluSerSerProAsnArgSerProProSerGlyProThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095887" }, { "@id": "http://reg.genome.network/allele/PA2829530705", "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_004518.5:c.967C>T" ], "proteinEffect": { "hgvs": "NP_004509.2:p.Gln323Ter", "hgvsWellDefined": "NP_004509.2:p.Gln323_Lys844delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525221" }, { "@id": "http://reg.genome.network/allele/PA2830344760", "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172106.2:c.967C>T" ], "proteinEffect": { "hgvs": "NP_742104.1:p.Gln323Ter", "hgvsWellDefined": "NP_742104.1:p.Gln323_Lys854delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526727" }, { "@id": "http://reg.genome.network/allele/PA342541", "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172107.3:c.967C>T" ], "proteinEffect": { "hgvs": "NP_742105.1:p.Gln323Ter", "hgvsWellDefined": "NP_742105.1:p.Gln323_Lys872delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526728" }, { "@id": "http://reg.genome.network/allele/PA2830346868", "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172108.4:c.967C>T" ], "proteinEffect": { "hgvs": "NP_742106.1:p.Gln323Ter", "hgvsWellDefined": "NP_742106.1:p.Gln323_Lys841delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526729" }, { "@id": "http://reg.genome.network/allele/PA916062627", "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172109.2:c.967C>T" ], "proteinEffect": { "hgvs": "NP_742107.1:p.Gln323Ter", "hgvsWellDefined": "NP_742107.1:p.Gln323_Ser393delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrArgTyrArgArgArgAlaProAlaThrLysGlnLeuPheHisPheLeuPheSerIleCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526730" }, { "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528810.2:c.967C>T" ], "proteinEffect": { "hgvs": "XP_011527112.1:p.Gln323Ter", "hgvsWellDefined": "XP_011527112.1:p.Gln323_Lys890delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549262" }, { "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528811.2:c.967C>T" ], "proteinEffect": { "hgvs": "XP_011527113.1:p.Gln323Ter", "hgvsWellDefined": "XP_011527113.1:p.Gln323_Lys880delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549263" }, { "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027841.2:c.967C>T" ], "proteinEffect": { "hgvs": "XP_016883330.1:p.Gln323Ter", "hgvsWellDefined": "XP_016883330.1:p.Gln323_Lys889delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577727" }, { "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027842.2:c.967C>T" ], "proteinEffect": { "hgvs": "XP_016883331.1:p.Gln323Ter", "hgvsWellDefined": "XP_016883331.1:p.Gln323_Lys868delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgGlnGluProArgLeuProValGlnGlnGlyThrArgThrGlyValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577728" }, { "coordinates": [ { "allele": "T", "end": 986, "referenceAllele": "C", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027843.1:c.898C>T" ], "proteinEffect": { "hgvs": "XP_016883332.1:p.Gln300Ter", "hgvsWellDefined": "XP_016883332.1:p.Gln300_Lys867delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577729" }, { "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027844.2:c.967C>T" ], "proteinEffect": { "hgvs": "XP_016883333.1:p.Gln323Ter", "hgvsWellDefined": "XP_016883333.1:p.Gln323_Lys853delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577730" }, { "@id": "http://reg.genome.network/allele/PA2829530705", "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_004518.6:c.967C>T" ], "proteinEffect": { "hgvs": "NP_004509.2:p.Gln323Ter", "hgvsWellDefined": "NP_004509.2:p.Gln323_Lys844delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696171" }, { "@id": "http://reg.genome.network/allele/PA2830344760", "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172106.3:c.967C>T" ], "proteinEffect": { "hgvs": "NP_742104.1:p.Gln323Ter", "hgvsWellDefined": "NP_742104.1:p.Gln323_Lys854delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700477" }, { "@id": "http://reg.genome.network/allele/PA342541", "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172107.4:c.967C>T" ], "proteinEffect": { "hgvs": "NP_742105.1:p.Gln323Ter", "hgvsWellDefined": "NP_742105.1:p.Gln323_Lys872delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700478", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359125.7:c.967C>T" }, "RefSeq": { "hgvs": "NM_172107.4:c.967C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352035.2:p.Gln323Ter" }, "RefSeq": { "hgvs": "NP_742105.1:p.Gln323Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830346868", "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172108.5:c.967C>T" ], "proteinEffect": { "hgvs": "NP_742106.1:p.Gln323Ter", "hgvsWellDefined": "NP_742106.1:p.Gln323_Lys841delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700479" }, { "@id": "http://reg.genome.network/allele/PA916062627", "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172109.3:c.967C>T" ], "proteinEffect": { "hgvs": "NP_742107.1:p.Gln323Ter", "hgvsWellDefined": "NP_742107.1:p.Gln323_Ser393delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrArgTyrArgArgArgAlaProAlaThrLysGlnLeuPheHisPheLeuPheSerIleCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700480" }, { "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_001382235.1:c.967C>T" ], "proteinEffect": { "hgvs": "NP_001369164.1:p.Gln323Ter", "hgvsWellDefined": "NP_001369164.1:p.Gln323_Lys890delinsHisArgGlnLysHisPheGluLysArgArgAsnProAlaAlaGlyLeuIleGlnSerAlaTrpArgPheTyrAlaThrAsnLeuSerArgThrAspLeuHisSerThrTrpGlnTyrTyrGluArgThrValThrValProMetTyrSerSerGlnThrGlnThrTyrGlyAlaSerArgLeuIleProProLeuAsnGlnLeuGluLeuLeuArgAsnLeuLysSerLysSerGlyLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722196" } ], "type": "nucleotide" }