{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA350325027", "communityStandardTitle": [ "NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=792725[alleleid]", "alleleId": 792725, "preferredName": "NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/804391", "RCV": [ "RCV000991370" ], "variationId": 804391 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.202609047C>A?assembly=hg19", "id": "chr2:g.202609047C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.201744324C>A?assembly=hg38", "id": "chr2:g.201744324C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1574748038", "rs": 1574748038 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 201744324, "referenceAllele": "C", "start": 201744323 } ], "hgvs": [ "NC_000002.12:g.201744324C>A", "CM000664.2:g.201744324C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 202609047, "referenceAllele": "C", "start": 202609046 } ], "hgvs": [ "NC_000002.11:g.202609047C>A", "CM000664.1:g.202609047C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 202317292, "referenceAllele": "C", "start": 202317291 } ], "hgvs": [ "NC_000002.10:g.202317292C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 41849, "referenceAllele": "G", "start": 41848 } ], "hgvs": [ "NG_008775.1:g.41849G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001208" } ], "transcriptAlleles": [ { 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"T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679416.1:n.2446G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779047" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679435.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000505218.1:p.Glu702Ter", "hgvsWellDefined": 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"start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679630.1:n.2446G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779258" }, { "coordinates": [ { "allele": "T", "end": 2218, "referenceAllele": "G", "start": 2217 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679686.1:n.2218G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779313" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679701.1:n.2446G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779328" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679916.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000506172.1:p.Glu702Ter", "hgvsWellDefined": "ENSP00000506172.1:p.Glu702_Leu1264delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysAspAsnSerGlyLeuIleGluGlnValGlyLysCysSerLeuLeuProTyrPheLeuLysValCysGluAlaLeuValLeuPheLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779538" }, { "coordinates": [ { "allele": "T", "end": 2381, "referenceAllele": "G", "start": 2380 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679939.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000505704.1:p.Glu702Ter", "hgvsWellDefined": "ENSP00000505704.1:p.Glu702_Asp812delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluGlnValSerSerProValSerCysSerIleSerAlaGlyLeuPheCysGlnGlyGluGlnLeuLeuAsnGlnLysArgLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779561" }, { "coordinates": [ { "allele": "T", "end": 2398, "referenceAllele": "G", "start": 2397 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679949.1:c.2056G>T" ], "proteinEffect": { "hgvs": "ENSP00000505232.1:p.Glu686Ter", "hgvsWellDefined": "ENSP00000505232.1:p.Glu686_Asp796delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluGlnValSerSerProValSerCysSerIleSerAlaGlyLeuPheCysGlnGlyGluGlnLeuLeuAsnGlnLysArgLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779571" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680000.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000506173.1:p.Glu702Ter", "hgvsWellDefined": "ENSP00000506173.1:p.Glu702_Ile1651delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysValSerIleValIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779622" }, { "coordinates": [ { "allele": "T", "end": 2384, "referenceAllele": "G", "start": 2383 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680135.1:c.*68G>T" ], "proteinEffect": { "hgvs": "ENSP00000506211.1:n.*68G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779756" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680149.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000506497.1:p.Glu702Ter", "hgvsWellDefined": "ENSP00000506497.1:p.Glu702_Thr1564delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleArgGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779769" }, { "coordinates": [ { "allele": "T", "end": 2488, "referenceAllele": "G", "start": 2487 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680163.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000505092.1:p.Glu702Ter", "hgvsWellDefined": "ENSP00000505092.1:p.Glu702_Asn1657delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779783" }, { "coordinates": [ { "allele": "T", "end": 2384, "referenceAllele": "G", "start": 2383 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680174.1:n.2384G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779794" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680236.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000506212.1:p.Glu702Ter", "hgvsWellDefined": "ENSP00000506212.1:p.Glu702_Thr955delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnGluTrpLeuLysAspAsnTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779856" }, { "coordinates": [ { "allele": "T", "end": 2244, "referenceAllele": "G", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680287.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000506547.1:p.Glu702Ter", "hgvsWellDefined": "ENSP00000506547.1:p.Glu702_Asp812delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluGlnValSerSerProValSerCysSerIleSerAlaGlyLeuPheCysGlnGlyGluGlnLeuLeuAsnGlnLysArgLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779906" }, { "coordinates": [ { "allele": "T", "end": 2464, "referenceAllele": "G", "start": 2463 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680497.1:c.2206G>T" ], "proteinEffect": { "hgvs": "ENSP00000505954.1:p.Glu736Ter", "hgvsWellDefined": "ENSP00000505954.1:p.Glu736_Asn1691delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780113" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680508.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000505749.1:p.Glu702Ter", "hgvsWellDefined": "ENSP00000505749.1:p.Glu702_Asp1620delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaSerIlePhePheSerLeuGlyGlnAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780124" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680569.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000505522.1:p.Glu702Ter", "hgvsWellDefined": "ENSP00000505522.1:p.Glu702_Gly792delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrAspArgValSerProCysCysProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780184" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680630.1:n.2446G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780245" }, { "coordinates": [ { "allele": "T", "end": 2145, "referenceAllele": "G", "start": 2144 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680644.1:c.*615G>T" ], "proteinEffect": { "hgvs": "ENSP00000505738.1:n.*615G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780259" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680726.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000505505.1:p.Glu702Ter", "hgvsWellDefined": "ENSP00000505505.1:p.Glu702_Thr1565delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleArgGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780341" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680737.1:n.2446G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780352" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680759.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000505848.1:p.Glu702Ter", "hgvsWellDefined": "ENSP00000505848.1:p.Glu702_Asn1601delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780374" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680814.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000505710.1:p.Glu702Ter", "hgvsWellDefined": "ENSP00000505710.1:p.Glu702_Glu1614delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780429" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680828.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000505249.1:p.Glu702Ter", "hgvsWellDefined": "ENSP00000505249.1:p.Glu702_Ser748delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGlyIleAlaHisLeuLeuGlnIleSerTrpLeuTrpGluAspSerSerPheLeuLeuSerLeuProLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780443" }, { "coordinates": [ { "allele": "T", "end": 2595, "referenceAllele": "G", "start": 2594 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680861.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000505043.1:p.Glu702Ter", "hgvsWellDefined": "ENSP00000505043.1:p.Glu702_Asn1657delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780475" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680927.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000505473.1:p.Glu702Ter", "hgvsWellDefined": "ENSP00000505473.1:p.Glu702_Ser1313delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuTrpSerLeuThrLeuSerProArgLeuAspCysSerGlyValIleSerAlaHisCysAsnLeuHisLeuProGlySerSerAspSerProAlaSerAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780541" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680939.1:n.2446G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780553" }, { "coordinates": [ { "allele": "T", "end": 3064, "referenceAllele": "G", "start": 3063 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681152.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000505388.1:p.Glu702Ter", "hgvsWellDefined": "ENSP00000505388.1:p.Glu702_Asn1237delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysValGlyAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780764" }, { "coordinates": [ { "allele": "T", "end": 1813, "endIntronDirection": "+", "endIntronOffset": 13078, "referenceAllele": "G", "start": 1813, "startIntronDirection": "+", "startIntronOffset": 13077 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681250.1:c.1471+13078G>T" ], "proteinEffect": { "hgvs": "ENSP00000505684.1:n.1471+13078G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780861" }, { "coordinates": [ { "allele": "T", "end": 2340, "endIntronDirection": "+", "endIntronOffset": 2242, "referenceAllele": "G", "start": 2340, "startIntronDirection": "+", "startIntronOffset": 2241 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681256.1:c.1998+2242G>T" ], "proteinEffect": { "hgvs": "ENSP00000505446.1:n.1998+2242G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780867" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "G", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681279.1:n.2446G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780890" }, { "coordinates": [ { "allele": "T", "end": 2244, "referenceAllele": "G", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681303.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000505576.1:p.Glu702Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS036690" }, { "coordinates": [ { "allele": "T", "end": 2239, "referenceAllele": "G", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_005246709.2:c.2104G>T" ], "proteinEffect": { "hgvs": "XP_005246766.1:p.Glu702Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057757" }, { "coordinates": [ { "allele": "T", "end": 2269, "referenceAllele": "G", "start": 2268 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712654.1:c.2104G>T" ], "proteinEffect": { "hgvs": "XP_006712717.1:p.Glu702Ter", "hgvsWellDefined": "XP_006712717.1:p.Glu702_Asn1657delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069756" }, { "coordinates": [ { "allele": "T", "end": 195, "referenceAllele": "G", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712655.2:c.40G>T" ], "proteinEffect": { "hgvs": "XP_006712718.1:p.Glu14Ter", "hgvsWellDefined": "XP_006712718.1:p.Glu14_Asn969delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069757" }, { "coordinates": [ { "allele": "T", "end": 2183, "referenceAllele": "G", "start": 2182 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_011511530.1:c.1765G>T" ], "proteinEffect": { "hgvs": "XP_011509832.1:p.Glu589Ter", "hgvsWellDefined": "XP_011509832.1:p.Glu589_Asn1544delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078791" }, { "coordinates": [ { "allele": "T", "end": 2239, "referenceAllele": "G", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_011511531.1:c.2104G>T" ], "proteinEffect": { "hgvs": "XP_011509833.1:p.Glu702Ter", "hgvsWellDefined": "XP_011509833.1:p.Glu702_Gln1342delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerLeuGlnAspLeuLeuTrpGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078792" }, { "coordinates": [ { "allele": "T", "end": 2239, "referenceAllele": "G", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_922974.1:n.2239G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS120036" }, { "coordinates": [ { "allele": "T", "end": 3064, "referenceAllele": "G", "start": 3063 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712654.3:c.2104G>T" ], "proteinEffect": { "hgvs": "XP_006712717.1:p.Glu702Ter", "hgvsWellDefined": "XP_006712717.1:p.Glu702_Asn1657delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538316" }, { "coordinates": [ { "allele": "T", "end": 674, "referenceAllele": "G", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712655.3:c.40G>T" ], "proteinEffect": { "hgvs": "XP_006712718.1:p.Glu14Ter", "hgvsWellDefined": "XP_006712718.1:p.Glu14_Asn969delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538317" }, { "coordinates": [ { "allele": "T", "end": 2239, "referenceAllele": "G", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_017004569.2:c.2104G>T" ], "proteinEffect": { "hgvs": "XP_016860058.1:p.Glu702Ter", "hgvsWellDefined": "XP_016860058.1:p.Glu702_Asn1656delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560036" }, { "coordinates": [ { "allele": "T", "end": 2239, "referenceAllele": "G", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_017004570.2:c.2104G>T" ], "proteinEffect": { "hgvs": "XP_016860059.1:p.Glu702Ter", "hgvsWellDefined": "XP_016860059.1:p.Glu702_Gln1342delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerLeuGlnAspLeuLeuTrpGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560037" }, { "coordinates": [ { "allele": "T", "end": 1357, "referenceAllele": "G", "start": 1356 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_017004572.2:c.-382G>T" ], "proteinEffect": { "hgvs": "XP_016860061.1:n.-382G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS560038" }, { "coordinates": [ { "allele": "T", "end": 2616, "referenceAllele": "G", "start": 2615 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_024453024.1:c.1765G>T" ], "proteinEffect": { "hgvs": "XP_024308792.1:p.Glu589Ter", "hgvsWellDefined": "XP_024308792.1:p.Glu589_Asn1544delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586411" }, { "coordinates": [ { "allele": "T", "end": 1295, "referenceAllele": "G", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_024453025.1:c.40G>T" ], "proteinEffect": { "hgvs": "XP_024308793.1:p.Glu14Ter", "hgvsWellDefined": "XP_024308793.1:p.Glu14_Asn968delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586412" }, { "coordinates": [ { "allele": "T", "end": 2239, "referenceAllele": "G", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_001738864.2:n.2239G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589304" }, { "coordinates": [ { "allele": "T", "end": 2239, "referenceAllele": "G", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_001738865.2:n.2239G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589305" }, { "coordinates": [ { "allele": "T", "end": 2239, "referenceAllele": "G", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_001738866.2:n.2239G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589306" }, { "coordinates": [ { "allele": "T", "end": 2239, "referenceAllele": "G", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_001738867.2:n.2239G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589307" }, { "coordinates": [ { "allele": "T", "end": 1295, "referenceAllele": "G", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_002959320.1:n.1295G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605253" }, { "@id": "http://reg.genome.network/allele/PA916052127", "coordinates": [ { "allele": "T", "end": 2221, "referenceAllele": "G", "start": 2220 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "NM_020919.4:c.2104G>T" ], "proteinEffect": { "hgvs": "NP_065970.2:p.Glu702Ter", "hgvsWellDefined": "NP_065970.2:p.Glu702_Asn1657delinsArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670148", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264276.11:c.2104G>T" }, "RefSeq": { "hgvs": "NM_020919.4:c.2104G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264276.6:p.Glu702Ter" }, "RefSeq": { "hgvs": "NP_065970.2:p.Glu702Ter" } } } } ], "type": "nucleotide" }