{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349025792", "communityStandardTitle": [ "NM_001040142.2(SCN2A):c.3538A>T (p.Lys1180Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166223744A>T?assembly=hg19", "id": "chr2:g.166223744A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.165367234A>T?assembly=hg38", "id": "chr2:g.165367234A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1553590087", "rs": 1553590087 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 165367234, "referenceAllele": "A", "start": 165367233 } ], "hgvs": [ "NC_000002.12:g.165367234A>T", "CM000664.2:g.165367234A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166223744, "referenceAllele": "A", "start": 166223743 } ], "hgvs": [ "NC_000002.11:g.166223744A>T", "CM000664.1:g.166223744A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 165931990, "referenceAllele": "A", "start": 165931989 } ], "hgvs": [ "NC_000002.10:g.165931990A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 132833, "referenceAllele": "A", "start": 132832 } ], "hgvs": [ "NG_008143.1:g.132833A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000889" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3816, "referenceAllele": "A", "start": 3815 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000631182.3:c.3538A>T" ], "proteinEffect": { "hgvs": "ENSP00000486885.1:p.Lys1180Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS826623", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000631182.3:c.3538A>T" }, "RefSeq": { "hgvs": "NM_001371246.1:c.3538A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000486885.1:p.Lys1180Ter" }, "RefSeq": { "hgvs": "NP_001358175.1:p.Lys1180Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3816, "referenceAllele": "A", "start": 3815 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000375437.7:c.3538A>T" ], "proteinEffect": { "hgvs": "ENSP00000364586.2:p.Lys1180Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS751612", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375437.7:c.3538A>T" }, "RefSeq": { "hgvs": "NM_001040142.2:c.3538A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364586.2:p.Lys1180Ter" }, "RefSeq": { "hgvs": "NP_001035232.1:p.Lys1180Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3915, "referenceAllele": "A", "start": 3914 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000636071.2:c.3538A>T" ], "proteinEffect": { "hgvs": "ENSP00000490107.1:p.Lys1180Ter", "hgvsWellDefined": "ENSP00000490107.1:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762851" }, { "coordinates": [ { "allele": "T", "end": 3837, "referenceAllele": "A", "start": 3836 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000636135.1:c.*1857A>T" ], "proteinEffect": { "hgvs": "ENSP00000489821.1:n.*1857A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS762897" }, { "coordinates": [ { "allele": "T", "end": 4041, "referenceAllele": "A", "start": 4040 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000636384.2:c.*1525A>T" ], "proteinEffect": { "hgvs": "ENSP00000490765.1:n.*1525A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS763075" }, { "coordinates": [ { "allele": "T", "end": 4490, "referenceAllele": "A", "start": 4489 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000636662.2:c.*4061A>T" ], "proteinEffect": { "hgvs": "ENSP00000489873.1:n.*4061A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS763290" }, { "coordinates": [ { "allele": "T", "end": 3771, "referenceAllele": "A", "start": 3770 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000636769.1:c.*1480A>T" ], "proteinEffect": { "hgvs": "ENSP00000490800.1:n.*1480A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS763366" }, { "coordinates": [ { "allele": "T", "end": 3890, "referenceAllele": "A", "start": 3889 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000636985.2:c.3142A>T" ], "proteinEffect": { "hgvs": "ENSP00000490849.1:p.Lys1048Ter", "hgvsWellDefined": "ENSP00000490849.1:p.Lys1048_Lys1873delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763522" }, { "coordinates": [ { "allele": "T", "end": 3644, "referenceAllele": "A", "start": 3643 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000637266.2:c.3538A>T" ], "proteinEffect": { "hgvs": "ENSP00000490866.1:p.Lys1180Ter", "hgvsWellDefined": "ENSP00000490866.1:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763740" }, { "coordinates": [ { "allele": "T", "end": 3694, "referenceAllele": "A", "start": 3693 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000283256.10:c.3538A>T" ], "proteinEffect": { "hgvs": "ENSP00000283256.6:p.Lys1180Ter", "hgvsWellDefined": "ENSP00000283256.6:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253151" }, { "coordinates": [ { "allele": "T", "end": 3589, "referenceAllele": "A", "start": 3588 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000375427.4:c.3538A>T" ], "proteinEffect": { "hgvs": "ENSP00000364576.2:p.Lys1180Ter", "hgvsWellDefined": "ENSP00000364576.2:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270704" }, { "coordinates": [ { "allele": "T", "end": 3828, "referenceAllele": "A", "start": 3827 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000375437.6:c.3538A>T" ], "proteinEffect": { "hgvs": "ENSP00000364586.2:p.Lys1180Ter", "hgvsWellDefined": "ENSP00000364586.2:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270710" }, { "coordinates": [ { "allele": "T", "end": 3681, "referenceAllele": "A", "start": 3680 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000480032.4:n.3681A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS320280" }, { "coordinates": [ { "allele": "T", "end": 3742, "referenceAllele": "A", "start": 3741 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000631182.2:c.3538A>T" ], "proteinEffect": { "hgvs": "ENSP00000486885.1:p.Lys1180Ter", "hgvsWellDefined": "ENSP00000486885.1:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407485" }, { "coordinates": [ { "allele": "T", "end": 3828, "referenceAllele": "A", "start": 3827 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "NM_001040142.1:c.3538A>T" ], "proteinEffect": { "hgvs": "NP_001035232.1:p.Lys1180Ter", "hgvsWellDefined": "NP_001035232.1:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009521" }, { "coordinates": [ { "allele": "T", "end": 3589, "referenceAllele": "A", "start": 3588 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "NM_001040143.1:c.3538A>T" ], "proteinEffect": { "hgvs": "NP_001035233.1:p.Lys1180Ter", "hgvsWellDefined": "NP_001035233.1:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009522" }, { "@id": "http://reg.genome.network/allele/PA3067644367", "coordinates": [ { "allele": "T", "end": 3894, "referenceAllele": "A", "start": 3893 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "NM_021007.2:c.3538A>T" ], "proteinEffect": { "hgvs": "NP_066287.2:p.Lys1180Ter", "hgvsWellDefined": "NP_066287.2:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036761" }, { "coordinates": [ { "allele": "T", "end": 3718, "referenceAllele": "A", "start": 3717 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_005246750.2:c.3538A>T" ], "proteinEffect": { "hgvs": "XP_005246807.1:p.Lys1180Ter", "hgvsWellDefined": "XP_005246807.1:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057775" }, { "coordinates": [ { "allele": "T", "end": 3838, "referenceAllele": "A", "start": 3837 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_005246753.2:c.3538A>T" ], "proteinEffect": { "hgvs": "XP_005246810.1:p.Lys1180Ter", "hgvsWellDefined": "XP_005246810.1:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057776" }, { "coordinates": [ { "allele": "T", "end": 3731, "referenceAllele": "A", "start": 3730 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_005246754.3:c.3508A>T" ], "proteinEffect": { "hgvs": "XP_005246811.1:p.Lys1170Ter", "hgvsWellDefined": "XP_005246811.1:p.Lys1170_Lys1995delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057777" }, { "coordinates": [ { "allele": "T", "end": 2927, "referenceAllele": "A", "start": 2926 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_005246755.3:c.2785A>T" ], "proteinEffect": { "hgvs": "XP_005246812.1:p.Lys929Ter", "hgvsWellDefined": "XP_005246812.1:p.Lys929_Lys1754delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057778" }, { "coordinates": [ { "allele": "T", "end": 3978, "referenceAllele": "A", "start": 3977 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_011511608.1:c.3538A>T" ], "proteinEffect": { "hgvs": "XP_011509910.1:p.Lys1180Ter", "hgvsWellDefined": "XP_011509910.1:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078869" }, { "coordinates": [ { "allele": "T", "end": 3871, "referenceAllele": "A", "start": 3870 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_011511609.1:c.3538A>T" ], "proteinEffect": { "hgvs": "XP_011509911.1:p.Lys1180Ter", "hgvsWellDefined": "XP_011509911.1:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078870" }, { "coordinates": [ { "allele": "T", "end": 3844, "referenceAllele": "A", "start": 3843 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_005246753.3:c.3538A>T" ], "proteinEffect": { "hgvs": "XP_005246810.1:p.Lys1180Ter", "hgvsWellDefined": "XP_005246810.1:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532689" }, { "coordinates": [ { "allele": "T", "end": 3799, "referenceAllele": "A", "start": 3798 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_017004656.1:c.3538A>T" ], "proteinEffect": { "hgvs": "XP_016860145.1:p.Lys1180Ter", "hgvsWellDefined": "XP_016860145.1:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560106" }, { "coordinates": [ { "allele": "T", "end": 3696, "referenceAllele": "A", "start": 3695 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_017004657.1:c.3538A>T" ], "proteinEffect": { "hgvs": "XP_016860146.1:p.Lys1180Ter", "hgvsWellDefined": "XP_016860146.1:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560107" }, { "coordinates": [ { "allele": "T", "end": 4008, "referenceAllele": "A", "start": 4007 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_017004658.1:c.2785A>T" ], "proteinEffect": { "hgvs": "XP_016860147.1:p.Lys929Ter", "hgvsWellDefined": "XP_016860147.1:p.Lys929_Lys1754delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560108" }, { "coordinates": [ { "allele": "T", "end": 2926, "referenceAllele": "A", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_017004659.1:c.1336A>T" ], "proteinEffect": { "hgvs": "XP_016860148.1:p.Lys446Ter", "hgvsWellDefined": "XP_016860148.1:p.Lys446_Lys1271delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560109" }, { "coordinates": [ { "allele": "T", "end": 3752, "referenceAllele": "A", "start": 3751 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_024453037.1:c.2785A>T" ], "proteinEffect": { "hgvs": "XP_024308805.1:p.Lys929Ter", "hgvsWellDefined": "XP_024308805.1:p.Lys929_Lys1754delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586424" }, { "coordinates": [ { "allele": "T", "end": 3816, "referenceAllele": "A", "start": 3815 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "NM_001040142.2:c.3538A>T" ], "proteinEffect": { "hgvs": "NP_001035232.1:p.Lys1180Ter", "hgvsWellDefined": "NP_001035232.1:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663144", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375437.7:c.3538A>T" }, "RefSeq": { "hgvs": "NM_001040142.2:c.3538A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364586.2:p.Lys1180Ter" }, "RefSeq": { "hgvs": "NP_001035232.1:p.Lys1180Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3935, "referenceAllele": "A", "start": 3934 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "NM_001040143.2:c.3538A>T" ], "proteinEffect": { "hgvs": "NP_001035233.1:p.Lys1180Ter", "hgvsWellDefined": "NP_001035233.1:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675962" }, { "coordinates": [ { "allele": "T", "end": 3816, "referenceAllele": "A", "start": 3815 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "NM_001371246.1:c.3538A>T" ], "proteinEffect": { "hgvs": "NP_001358175.1:p.Lys1180Ter", "hgvsWellDefined": "NP_001358175.1:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692751", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000631182.3:c.3538A>T" }, "RefSeq": { "hgvs": "NM_001371246.1:c.3538A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000486885.1:p.Lys1180Ter" }, "RefSeq": { "hgvs": "NP_001358175.1:p.Lys1180Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3644, "referenceAllele": "A", "start": 3643 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "NM_001371247.1:c.3538A>T" ], "proteinEffect": { "hgvs": "NP_001358176.1:p.Lys1180Ter", "hgvsWellDefined": "NP_001358176.1:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692752" }, { "@id": "http://reg.genome.network/allele/PA3067644367", "coordinates": [ { "allele": "T", "end": 3670, "referenceAllele": "A", "start": 3669 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "NM_021007.3:c.3538A>T" ], "proteinEffect": { "hgvs": "NP_066287.2:p.Lys1180Ter", "hgvsWellDefined": "NP_066287.2:p.Lys1180_Lys2005delinsCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698348" } ], "type": "nucleotide" }