{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16620966", "communityStandardTitle": [ "NM_172107.4(KCNQ2):c.1204G>T (p.Gly402Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410822[alleleid]", "alleleId": 410822, "preferredName": "NM_172107.4(KCNQ2):c.1204G>T (p.Gly402Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419629", "RCV": [ "RCV000486931" ], "variationId": 419629 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.62059733C>A?assembly=hg19", "id": "chr20:g.62059733C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.63428380C>A?assembly=hg38", "id": "chr20:g.63428380C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794001", "rs": 1064794001 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-63428380-C-A?dataset=gnomad_r4", "id": "20-63428380-C-A", "variant": "20:63428380 C / A" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 63428380, "referenceAllele": "C", "start": 63428379 } ], "hgvs": [ "NC_000020.11:g.63428380C>A", "CM000682.2:g.63428380C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 62059733, "referenceAllele": "C", "start": 62059732 } ], "hgvs": [ "NC_000020.10:g.62059733C>A", "CM000682.1:g.62059733C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 61530177, "referenceAllele": "C", "start": 61530176 } ], "hgvs": [ "NC_000020.9:g.61530177C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 49261, "referenceAllele": "G", "start": 49260 } ], "hgvs": [ "NG_009004.1:g.49261G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001372" }, { "coordinates": [ { "allele": "T", "end": 49261, "referenceAllele": "G", "start": 49260 } ], "hgvs": [ "NG_009004.2:g.49261G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616122" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1396, "referenceAllele": "G", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000706989.1:c.1204G>T" ], "proteinEffect": { "hgvs": "ENSP00000516702.1:p.Gly402Ter", "hgvsWellDefined": "ENSP00000516702.1:p.Gly402_Lys890delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS913294" }, { "coordinates": [ { "allele": "T", "end": 1396, "referenceAllele": "G", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000359125.7:c.1204G>T" ], "proteinEffect": { "hgvs": "ENSP00000352035.2:p.Gly402Ter", "hgvsWellDefined": "ENSP00000352035.2:p.Gly402_Lys872delinsLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749156", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359125.7:c.1204G>T" }, "RefSeq": { "hgvs": "NM_172107.4:c.1204G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352035.2:p.Gly402Ter" }, "RefSeq": { "hgvs": "NP_742105.1:p.Gly402Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 87, "referenceAllele": "G", "start": 86 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000636638.1:n.87G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763271" }, { "coordinates": [ { "allele": "T", "end": 1057, "referenceAllele": "G", "start": 1056 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000637193.1:c.655G>T" ], "proteinEffect": { "hgvs": "ENSP00000490734.1:p.Gly219Ter", "hgvsWellDefined": "ENSP00000490734.1:p.Gly219_Lys671delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763682" }, { "coordinates": [ { "allele": "T", "end": 43, "referenceAllele": "G", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000637632.1:n.43G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763999" }, { "coordinates": [ { "allele": "T", "end": 1250, "referenceAllele": "G", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000344462.8:c.1204G>T" ], "proteinEffect": { "hgvs": "ENSP00000339611.4:p.Gly402Ter", "hgvsWellDefined": "ENSP00000339611.4:p.Gly402_Lys841delinsLeuAlaPheArgLysAspProProProGluProSerProSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261982" }, { "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000357249.6:c.862G>T" ], "proteinEffect": { "hgvs": "ENSP00000349789.3:p.Gly288Ter", "hgvsWellDefined": "ENSP00000349789.3:p.Gly288_Lys728delinsLeuAlaPheArgLysAspProProProGluProSerProSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264035" }, { "coordinates": [ { "allele": "T", "end": 1331, "referenceAllele": "G", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000359125.6:c.1204G>T" ], "proteinEffect": { "hgvs": "ENSP00000352035.2:p.Gly402Ter", "hgvsWellDefined": "ENSP00000352035.2:p.Gly402_Lys872delinsLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264683" }, { "coordinates": [ { "allele": "T", "end": 1216, "referenceAllele": "G", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000360480.7:c.1174G>T" ], "proteinEffect": { "hgvs": "ENSP00000353668.3:p.Gly392Ter", "hgvsWellDefined": "ENSP00000353668.3:p.Gly392_Lys844delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265147" }, { "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "G", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000370221.3:n.1330G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS267943" }, { "coordinates": [ { "allele": "T", "end": 1309, "referenceAllele": "G", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000370224.5:c.1174G>T" ], "proteinEffect": { "hgvs": "ENSP00000359244.2:p.Gly392Ter", "hgvsWellDefined": "ENSP00000359244.2:p.Gly392_His766delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuGlyArgAlaProGluThrArgAlaGlyGlnGluGlySerHisGlyGlyValSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267945" }, { "coordinates": [ { "allele": "T", "end": 1266, "referenceAllele": "G", "start": 1265 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000625514.2:c.1174G>T" ], "proteinEffect": { "hgvs": "ENSP00000486040.1:p.Gly392Ter", "hgvsWellDefined": "ENSP00000486040.1:p.Gly392_His754delinsLeuAlaPheArgLysAspProProProGluProSerProSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuGlyArgAlaProGluThrArgAlaGlyGlnGluGlySerHisGlyGlyValSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406588" }, { "coordinates": [ { "allele": "T", "end": 1418, "referenceAllele": "G", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000626839.2:c.1204G>T" ], "proteinEffect": { "hgvs": "ENSP00000486706.1:p.Gly402Ter", "hgvsWellDefined": "ENSP00000486706.1:p.Gly402_Lys854delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406799" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000627221.2:c.318G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS406856" }, { "coordinates": [ { "allele": "T", "end": 1266, "referenceAllele": "G", "start": 1265 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000629241.2:c.1174G>T" ], "proteinEffect": { "hgvs": "ENSP00000487142.1:p.Gly392Ter", "hgvsWellDefined": "ENSP00000487142.1:p.Gly392_His730delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuGlyArgAlaProGluThrArgAlaGlyGlnGluGlySerHisGlyGlyValSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407190" }, { "coordinates": [ { "allele": "T", "end": 1266, "referenceAllele": "G", "start": 1265 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000629676.2:c.1174G>T" ], "proteinEffect": { "hgvs": "ENSP00000486194.1:p.Gly392Ter", "hgvsWellDefined": "ENSP00000486194.1:p.Gly392_Ser645delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgAspGlyLeuGlnArgHisAlaGlnGlyArgArgGlyLeuThrGluGlySerArgThrGluAlaProArgAlaGlyGlyProAlaGlyArgHisProSerAlaArgAspProHisGlyProArgValProAlaMetProAlaProHisAlaIleAlaValCysHisProLeuAlaValThrValAlaAlaAlaSerProPheAlaProLeuProLeuAlaValCysThrPheValHisAlaProLysAsnIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407259" }, { "@id": "http://reg.genome.network/allele/PA2829530996", "coordinates": [ { "allele": "T", "end": 1351, "referenceAllele": "G", "start": 1350 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_004518.4:c.1174G>T" ], "proteinEffect": { "hgvs": "NP_004509.2:p.Gly392Ter", "hgvsWellDefined": "NP_004509.2:p.Gly392_Lys844delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029676" }, { "@id": "http://reg.genome.network/allele/PA2830344896", "coordinates": [ { "allele": "T", "end": 1381, "referenceAllele": "G", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172106.1:c.1204G>T" ], "proteinEffect": { "hgvs": "NP_742104.1:p.Gly402Ter", "hgvsWellDefined": "NP_742104.1:p.Gly402_Lys854delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042648" }, { "@id": "http://reg.genome.network/allele/PA645422533", "coordinates": [ { "allele": "T", "end": 1381, "referenceAllele": "G", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172107.2:c.1204G>T" ], "proteinEffect": { "hgvs": "NP_742105.1:p.Gly402Ter", "hgvsWellDefined": "NP_742105.1:p.Gly402_Lys872delinsLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042649" }, { "@id": "http://reg.genome.network/allele/PA916062282", "coordinates": [ { "allele": "T", "end": 1381, "referenceAllele": "G", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172108.3:c.1204G>T" ], "proteinEffect": { "hgvs": "NP_742106.1:p.Gly402Ter", "hgvsWellDefined": "NP_742106.1:p.Gly402_Lys841delinsLeuAlaPheArgLysAspProProProGluProSerProSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042650" }, { "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "G", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_006723787.1:c.1204G>T" ], "proteinEffect": { "hgvs": "XP_006723850.1:p.Gly402Ter", "hgvsWellDefined": "XP_006723850.1:p.Gly402_Lys886delinsLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgGlnGluProArgLeuProValGlnGlnGlyThrArgThrGlyValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075200" }, { "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "G", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528807.1:c.1204G>T" ], "proteinEffect": { "hgvs": "XP_011527109.1:p.Gly402Ter", "hgvsWellDefined": "XP_011527109.1:p.Gly402_Lys908delinsLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095878" }, { "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "G", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528808.1:c.1204G>T" ], "proteinEffect": { "hgvs": "XP_011527110.1:p.Gly402Ter", "hgvsWellDefined": "XP_011527110.1:p.Gly402_Lys907delinsLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095879" }, { "coordinates": [ { "allele": "T", "end": 1300, "referenceAllele": "G", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528809.1:c.1174G>T" ], "proteinEffect": { "hgvs": "XP_011527111.1:p.Gly392Ter", "hgvsWellDefined": "XP_011527111.1:p.Gly392_Lys898delinsLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095880" }, { "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "G", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528810.1:c.1204G>T" ], "proteinEffect": { "hgvs": "XP_011527112.1:p.Gly402Ter", "hgvsWellDefined": "XP_011527112.1:p.Gly402_Lys890delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095881" }, { "coordinates": [ { "allele": "T", "end": 1300, "referenceAllele": "G", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528811.1:c.1174G>T" ], "proteinEffect": { "hgvs": "XP_011527113.1:p.Gly392Ter", "hgvsWellDefined": "XP_011527113.1:p.Gly392_Lys880delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095882" }, { "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "G", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528812.1:c.1204G>T" ], "proteinEffect": { "hgvs": "XP_011527114.1:p.Gly402Ter", "hgvsWellDefined": "XP_011527114.1:p.Gly402_Lys871delinsLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095883" }, { "coordinates": [ { "allele": "T", "end": 1204, "referenceAllele": "G", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528813.1:c.1078G>T" ], "proteinEffect": { "hgvs": "XP_011527115.1:p.Gly360Ter", "hgvsWellDefined": "XP_011527115.1:p.Gly360_Lys866delinsLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095884" }, { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "G", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528814.1:c.685G>T" ], "proteinEffect": { "hgvs": "XP_011527116.1:p.Gly229Ter", "hgvsWellDefined": "XP_011527116.1:p.Gly229_Lys735delinsLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095885" }, { "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "G", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528815.1:c.1204G>T" ], "proteinEffect": { "hgvs": "XP_011527117.1:p.Gly402Ter", "hgvsWellDefined": "XP_011527117.1:p.Gly402_Ala682delinsLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnGluProProGlnArgThrLeuValLeuGlyProAlaSerGluSerArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095886" }, { "@id": "http://reg.genome.network/allele/PA2829530996", "coordinates": [ { "allele": "T", "end": 1388, "referenceAllele": "G", "start": 1387 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_004518.5:c.1174G>T" ], "proteinEffect": { "hgvs": "NP_004509.2:p.Gly392Ter", "hgvsWellDefined": "NP_004509.2:p.Gly392_Lys844delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525221" }, { "@id": "http://reg.genome.network/allele/PA2830344896", "coordinates": [ { "allele": "T", "end": 1418, "referenceAllele": "G", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172106.2:c.1204G>T" ], "proteinEffect": { "hgvs": "NP_742104.1:p.Gly402Ter", "hgvsWellDefined": "NP_742104.1:p.Gly402_Lys854delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526727" }, { "@id": "http://reg.genome.network/allele/PA645422533", "coordinates": [ { "allele": "T", "end": 1418, "referenceAllele": "G", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172107.3:c.1204G>T" ], "proteinEffect": { "hgvs": "NP_742105.1:p.Gly402Ter", "hgvsWellDefined": "NP_742105.1:p.Gly402_Lys872delinsLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526728" }, { "@id": "http://reg.genome.network/allele/PA916062282", "coordinates": [ { "allele": "T", "end": 1418, "referenceAllele": "G", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172108.4:c.1204G>T" ], "proteinEffect": { "hgvs": "NP_742106.1:p.Gly402Ter", "hgvsWellDefined": "NP_742106.1:p.Gly402_Lys841delinsLeuAlaPheArgLysAspProProProGluProSerProSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526729" }, { "coordinates": [ { "allele": "T", "end": 1362, "referenceAllele": "G", "start": 1361 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528810.2:c.1204G>T" ], "proteinEffect": { "hgvs": "XP_011527112.1:p.Gly402Ter", "hgvsWellDefined": "XP_011527112.1:p.Gly402_Lys890delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549262" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "G", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528811.2:c.1174G>T" ], "proteinEffect": { "hgvs": "XP_011527113.1:p.Gly392Ter", "hgvsWellDefined": "XP_011527113.1:p.Gly392_Lys880delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549263" }, { "coordinates": [ { "allele": "T", "end": 1362, "referenceAllele": "G", "start": 1361 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027841.2:c.1204G>T" ], "proteinEffect": { "hgvs": "XP_016883330.1:p.Gly402Ter", "hgvsWellDefined": "XP_016883330.1:p.Gly402_Lys889delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577727" }, { "coordinates": [ { "allele": "T", "end": 1362, "referenceAllele": "G", "start": 1361 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027842.2:c.1204G>T" ], "proteinEffect": { "hgvs": "XP_016883331.1:p.Gly402Ter", "hgvsWellDefined": "XP_016883331.1:p.Gly402_Lys868delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgGlnGluProArgLeuProValGlnGlnGlyThrArgThrGlyValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577728" }, { "coordinates": [ { "allele": "T", "end": 1223, "referenceAllele": "G", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027843.1:c.1135G>T" ], "proteinEffect": { "hgvs": "XP_016883332.1:p.Gly379Ter", "hgvsWellDefined": "XP_016883332.1:p.Gly379_Lys867delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577729" }, { "coordinates": [ { "allele": "T", "end": 1362, "referenceAllele": "G", "start": 1361 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027844.2:c.1204G>T" ], "proteinEffect": { "hgvs": "XP_016883333.1:p.Gly402Ter", "hgvsWellDefined": "XP_016883333.1:p.Gly402_Lys853delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577730" }, { "@id": "http://reg.genome.network/allele/PA2829530996", "coordinates": [ { "allele": "T", "end": 1366, "referenceAllele": "G", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_004518.6:c.1174G>T" ], "proteinEffect": { "hgvs": "NP_004509.2:p.Gly392Ter", "hgvsWellDefined": "NP_004509.2:p.Gly392_Lys844delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696171" }, { "@id": "http://reg.genome.network/allele/PA2830344896", "coordinates": [ { "allele": "T", "end": 1396, "referenceAllele": "G", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172106.3:c.1204G>T" ], "proteinEffect": { "hgvs": "NP_742104.1:p.Gly402Ter", "hgvsWellDefined": "NP_742104.1:p.Gly402_Lys854delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700477" }, { "@id": "http://reg.genome.network/allele/PA645422533", "coordinates": [ { "allele": "T", "end": 1396, "referenceAllele": "G", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172107.4:c.1204G>T" ], "proteinEffect": { "hgvs": "NP_742105.1:p.Gly402Ter", "hgvsWellDefined": "NP_742105.1:p.Gly402_Lys872delinsLeuAlaPheArgLysAspProProProGluProSerProSerLysGlySerProCysArgGlyProLeuCysGlyCysCysProGlyArgSerSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700478", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359125.7:c.1204G>T" }, "RefSeq": { "hgvs": "NM_172107.4:c.1204G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352035.2:p.Gly402Ter" }, "RefSeq": { "hgvs": "NP_742105.1:p.Gly402Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916062282", "coordinates": [ { "allele": "T", "end": 1396, "referenceAllele": "G", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172108.5:c.1204G>T" ], "proteinEffect": { "hgvs": "NP_742106.1:p.Gly402Ter", "hgvsWellDefined": "NP_742106.1:p.Gly402_Lys841delinsLeuAlaPheArgLysAspProProProGluProSerProSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700479" }, { "coordinates": [ { "allele": "T", "end": 1396, "referenceAllele": "G", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_001382235.1:c.1204G>T" ], "proteinEffect": { "hgvs": "NP_001369164.1:p.Gly402Ter", "hgvsWellDefined": "NP_001369164.1:p.Gly402_Lys890delinsLeuAlaPheArgLysAspProProProGluProSerProSerGlnLysValSerLeuLysAspArgValPheSerSerProArgGlyValAlaAlaLysGlyLysGlySerProGlnAlaGlnThrValArgArgSerProSerAlaAspGlnSerLeuGluAspSerProSerLysValProLysSerTrpSerPheGlyAspArgSerArgAlaArgGlnAlaPheArgIleLysGlyAlaAlaSerArgGlnAsnSerGluGluAlaSerLeuProGlyGluAspIleValAspAspLysSerCysProCysGluPheValThrGluAspLeuThrProGlyLeuLysValSerIleArgAlaValCysValMetArgPheLeuValSerLysArgLysPheLysGluSerLeuArgProTyrAspValMetAspValIleGluGlnTyrSerAlaGlyHisLeuAspMetLeuSerArgIleLysSerLeuGlnSerArgIleAspMetIleValGlyProProProProSerThrProArgHisLysLysTyrProThrLysGlyProThrAlaProProArgGluSerProGlnTyrSerProArgValAspGlnIleValGlyArgGlyProAlaIleThrAspLysAspArgThrLysGlyProAlaGluAlaGluLeuProGluAspProSerMetMetGlyArgLeuGlyLysValGluLysGlnValLeuSerMetGluLysLysLeuAspPheLeuValAsnIleTyrMetGlnArgMetGlyIleProProThrGluThrGluAlaTyrPheGlyAlaLysGluProGluProAlaProProTyrHisSerProGluAspSerArgGluHisValAspArgHisGlyCysIleValLysIleValArgSerSerSerSerThrGlyGlnLysAsnPheSerAlaProProAlaAlaProProValGlnCysProProSerThrSerTrpGlnProGlnSerHisProArgGlnGlyHisGlyThrSerProValGlyAspHisGlySerLeuValArgIleProProProProAlaHisGluArgSerLeuSerAlaTyrGlyGlyGlyAsnArgAlaSerMetGluPheLeuArgGlnGluAspThrProGlyCysArgProProGluGlyAsnLeuArgAspSerAspThrSerIleSerIleProSerValAspHisGluGluLeuGluArgSerPheSerGlyPheSerIleSerGlnSerLysGluAsnLeuAspAlaLeuAsnSerCysTyrAlaAlaValAlaProCysAlaLysValArgProTyrIleAlaGluGlyGluSerAspThrAspSerAspLeuCysThrProCysGlyProProProArgSerAlaThrGlyGluGlyProPheGlyAspValGlyTrpAlaGlyProArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722196" } ], "type": "nucleotide" }