{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA273787", "communityStandardTitle": [ "NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181372[alleleid]", "alleleId": 181372, "preferredName": "NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183239", "RCV": [ "RCV000162071" ], "variationId": 183239 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.202609149C>A?assembly=hg19", "id": "chr2:g.202609149C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.201744426C>A?assembly=hg38", "id": "chr2:g.201744426C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/730882255", "rs": 730882255 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 201744426, 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"T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679416.1:n.2344G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779047" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679435.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000505218.1:p.Gly668Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS779066" }, { "coordinates": [ { "allele": "T", "end": 2260, "referenceAllele": "G", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679516.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000505187.1:p.Gly668Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS779146" }, { "coordinates": [ { "allele": "T", "end": 1231, "referenceAllele": "G", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679549.1:n.1231G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779178" }, { "coordinates": [ { "allele": "T", "end": 2402, "referenceAllele": "G", "start": 2401 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679550.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000506193.1:p.Gly668Ter", "hgvsWellDefined": "ENSP00000506193.1:p.Gly668_Asp812delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluGlnValSerSerProValSerCysSerIleSerAlaGlyLeuPheCysGlnGlyGluGlnLeuLeuAsnGlnLysArgLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779179" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679618.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000506274.1:p.Gly668Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS779246" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679630.1:n.2344G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779258" }, { "coordinates": [ { "allele": "T", "end": 2116, "referenceAllele": "G", "start": 2115 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679686.1:n.2116G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779313" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679701.1:n.2344G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779328" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679916.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000506172.1:p.Gly668Ter", "hgvsWellDefined": "ENSP00000506172.1:p.Gly668_Leu1264delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysAspAsnSerGlyLeuIleGluGlnValGlyLysCysSerLeuLeuProTyrPheLeuLysValCysGluAlaLeuValLeuPheLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779538" }, { "coordinates": [ { "allele": "T", "end": 2279, "referenceAllele": "G", "start": 2278 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679939.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000505704.1:p.Gly668Ter", "hgvsWellDefined": "ENSP00000505704.1:p.Gly668_Asp812delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluGlnValSerSerProValSerCysSerIleSerAlaGlyLeuPheCysGlnGlyGluGlnLeuLeuAsnGlnLysArgLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779561" }, { "coordinates": [ { "allele": "T", "end": 2296, "referenceAllele": "G", "start": 2295 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679949.1:c.1954G>T" ], "proteinEffect": { "hgvs": "ENSP00000505232.1:p.Gly652Ter", "hgvsWellDefined": "ENSP00000505232.1:p.Gly652_Asp796delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluGlnValSerSerProValSerCysSerIleSerAlaGlyLeuPheCysGlnGlyGluGlnLeuLeuAsnGlnLysArgLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779571" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680000.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000506173.1:p.Gly668Ter", "hgvsWellDefined": "ENSP00000506173.1:p.Gly668_Ile1651delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysValSerIleValIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779622" }, { "coordinates": [ { "allele": "T", "end": 2282, "referenceAllele": "G", "start": 2281 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680135.1:c.1940G>T" ], "proteinEffect": { "hgvs": "ENSP00000506211.1:p.Trp647Leu", "hgvsWellDefined": "ENSP00000506211.1:p.Trp647Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS779756" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680149.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000506497.1:p.Gly668Ter", "hgvsWellDefined": "ENSP00000506497.1:p.Gly668_Thr1564delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleArgGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779769" }, { "coordinates": [ { "allele": "T", "end": 2386, "referenceAllele": "G", "start": 2385 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680163.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000505092.1:p.Gly668Ter", "hgvsWellDefined": "ENSP00000505092.1:p.Gly668_Asn1657delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779783" }, { "coordinates": [ { "allele": "T", "end": 2282, "referenceAllele": "G", "start": 2281 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680174.1:n.2282G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779794" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680236.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000506212.1:p.Gly668Ter", "hgvsWellDefined": "ENSP00000506212.1:p.Gly668_Thr955delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnGluTrpLeuLysAspAsnTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779856" }, { "coordinates": [ { "allele": "T", "end": 2142, "referenceAllele": "G", "start": 2141 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680287.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000506547.1:p.Gly668Ter", "hgvsWellDefined": "ENSP00000506547.1:p.Gly668_Asp812delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluGlnValSerSerProValSerCysSerIleSerAlaGlyLeuPheCysGlnGlyGluGlnLeuLeuAsnGlnLysArgLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779906" }, { "coordinates": [ { "allele": "T", "end": 2362, "referenceAllele": "G", "start": 2361 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680497.1:c.2104G>T" ], "proteinEffect": { "hgvs": "ENSP00000505954.1:p.Gly702Ter", "hgvsWellDefined": "ENSP00000505954.1:p.Gly702_Asn1691delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780113" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680508.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000505749.1:p.Gly668Ter", "hgvsWellDefined": "ENSP00000505749.1:p.Gly668_Asp1620delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaSerIlePhePheSerLeuGlyGlnAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780124" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680569.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000505522.1:p.Gly668Ter", "hgvsWellDefined": "ENSP00000505522.1:p.Gly668_Gly792delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrAspArgValSerProCysCysProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780184" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680630.1:n.2344G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780245" }, { "coordinates": [ { "allele": "T", "end": 2043, "referenceAllele": "G", "start": 2042 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680644.1:c.*513G>T" ], "proteinEffect": { "hgvs": "ENSP00000505738.1:n.*513G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780259" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680726.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000505505.1:p.Gly668Ter", "hgvsWellDefined": "ENSP00000505505.1:p.Gly668_Thr1565delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleArgGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780341" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680737.1:n.2344G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780352" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680759.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000505848.1:p.Gly668Ter", "hgvsWellDefined": "ENSP00000505848.1:p.Gly668_Asn1601delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780374" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680814.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000505710.1:p.Gly668Ter", "hgvsWellDefined": "ENSP00000505710.1:p.Gly668_Glu1614delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780429" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680828.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000505249.1:p.Gly668Ter", "hgvsWellDefined": "ENSP00000505249.1:p.Gly668_Ser748delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGlyIleAlaHisLeuLeuGlnIleSerTrpLeuTrpGluAspSerSerPheLeuLeuSerLeuProLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780443" }, { "coordinates": [ { "allele": "T", "end": 2493, "referenceAllele": "G", "start": 2492 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680861.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000505043.1:p.Gly668Ter", "hgvsWellDefined": "ENSP00000505043.1:p.Gly668_Asn1657delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780475" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680927.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000505473.1:p.Gly668Ter", "hgvsWellDefined": "ENSP00000505473.1:p.Gly668_Ser1313delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuTrpSerLeuThrLeuSerProArgLeuAspCysSerGlyValIleSerAlaHisCysAsnLeuHisLeuProGlySerSerAspSerProAlaSerAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780541" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680939.1:n.2344G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780553" }, { "coordinates": [ { "allele": "T", "end": 2962, "referenceAllele": "G", "start": 2961 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681152.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000505388.1:p.Gly668Ter", "hgvsWellDefined": "ENSP00000505388.1:p.Gly668_Asn1237delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysValGlyAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780764" }, { "coordinates": [ { "allele": "T", "end": 1813, "endIntronDirection": "+", "endIntronOffset": 12976, "referenceAllele": "G", "start": 1813, "startIntronDirection": "+", "startIntronOffset": 12975 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681250.1:c.1471+12976G>T" ], "proteinEffect": { "hgvs": "ENSP00000505684.1:n.1471+12976G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780861" }, { "coordinates": [ { "allele": "T", "end": 2340, "endIntronDirection": "+", "endIntronOffset": 2140, "referenceAllele": "G", "start": 2340, "startIntronDirection": "+", "startIntronOffset": 2139 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681256.1:c.1998+2140G>T" ], "proteinEffect": { "hgvs": "ENSP00000505446.1:n.1998+2140G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780867" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681279.1:n.2344G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780890" }, { "coordinates": [ { "allele": "T", "end": 2142, "referenceAllele": "G", "start": 2141 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681303.1:c.2002G>T" ], "proteinEffect": { "hgvs": "ENSP00000505576.1:p.Gly668Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS251471" }, { "coordinates": [ { "allele": "T", "end": 2142, "referenceAllele": "G", "start": 2141 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000482789.5:n.2142G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322399" }, { "coordinates": [ { "allele": "T", "end": 2142, "referenceAllele": "G", "start": 2141 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000482891.5:n.2142G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322483" }, { "@id": "http://reg.genome.network/allele/PA273788", "coordinates": [ { "allele": "T", "end": 2358, "referenceAllele": "G", "start": 2357 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "NM_020919.3:c.2002G>T" ], "proteinEffect": { "hgvs": "NP_065970.2:p.Gly668Ter", "hgvsWellDefined": "NP_065970.2:p.Gly668_Asn1657delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036690" }, { "coordinates": [ { "allele": "T", "end": 2137, "referenceAllele": "G", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_005246709.2:c.2002G>T" ], "proteinEffect": { "hgvs": "XP_005246766.1:p.Gly668Ter", "hgvsWellDefined": "XP_005246766.1:p.Gly668_Asn1656delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057757" }, { "coordinates": [ { "allele": "T", "end": 2167, "referenceAllele": "G", "start": 2166 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712654.1:c.2002G>T" ], "proteinEffect": { "hgvs": "XP_006712717.1:p.Gly668Ter", "hgvsWellDefined": "XP_006712717.1:p.Gly668_Asn1657delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069756" }, { "coordinates": [ { "allele": "T", "end": 93, "referenceAllele": "G", "start": 92 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712655.2:c.-63G>T" ], "proteinEffect": { "hgvs": "XP_006712718.1:n.-63G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS069757" }, { "coordinates": [ { "allele": "T", "end": 2081, "referenceAllele": "G", "start": 2080 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_011511530.1:c.1663G>T" ], "proteinEffect": { "hgvs": "XP_011509832.1:p.Gly555Ter", "hgvsWellDefined": "XP_011509832.1:p.Gly555_Asn1544delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078791" }, { "coordinates": [ { "allele": "T", "end": 2137, "referenceAllele": "G", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_011511531.1:c.2002G>T" ], "proteinEffect": { "hgvs": "XP_011509833.1:p.Gly668Ter", "hgvsWellDefined": "XP_011509833.1:p.Gly668_Gln1342delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerLeuGlnAspLeuLeuTrpGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078792" }, { "coordinates": [ { "allele": "T", "end": 2137, "referenceAllele": "G", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_922974.1:n.2137G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS120036" }, { "coordinates": [ { "allele": "T", "end": 2962, "referenceAllele": "G", "start": 2961 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712654.3:c.2002G>T" ], "proteinEffect": { "hgvs": "XP_006712717.1:p.Gly668Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS538316" }, { "coordinates": [ { "allele": "T", "end": 572, "referenceAllele": "G", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712655.3:c.-63G>T" ], "proteinEffect": { "hgvs": "XP_006712718.1:n.-63G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS538317" }, { "coordinates": [ { "allele": "T", "end": 2137, "referenceAllele": "G", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_017004569.2:c.2002G>T" ], "proteinEffect": { "hgvs": "XP_016860058.1:p.Gly668Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS560036" }, { "coordinates": [ { "allele": "T", "end": 2137, "referenceAllele": "G", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_017004570.2:c.2002G>T" ], "proteinEffect": { "hgvs": "XP_016860059.1:p.Gly668Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS560037" }, { "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "G", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_017004572.2:c.-484G>T" ], "proteinEffect": { "hgvs": "XP_016860061.1:n.-484G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS560038" }, { "coordinates": [ { "allele": "T", "end": 2514, "referenceAllele": "G", "start": 2513 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_024453024.1:c.1663G>T" ], "proteinEffect": { "hgvs": "XP_024308792.1:p.Gly555Ter", "hgvsWellDefined": "XP_024308792.1:p.Gly555_Asn1544delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586411" }, { "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "G", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_024453025.1:c.-63G>T" ], "proteinEffect": { "hgvs": "XP_024308793.1:n.-63G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS586412" }, { "coordinates": [ { "allele": "T", "end": 2137, "referenceAllele": "G", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_001738864.2:n.2137G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589304" }, { "coordinates": [ { "allele": "T", "end": 2137, "referenceAllele": "G", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_001738865.2:n.2137G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589305" }, { "coordinates": [ { "allele": "T", "end": 2137, "referenceAllele": "G", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_001738866.2:n.2137G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589306" }, { "coordinates": [ { "allele": "T", "end": 2137, "referenceAllele": "G", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_001738867.2:n.2137G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589307" }, { "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "G", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_002959320.1:n.1193G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605253" }, { "@id": "http://reg.genome.network/allele/PA273788", "coordinates": [ { "allele": "T", "end": 2119, "referenceAllele": "G", "start": 2118 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "NM_020919.4:c.2002G>T" ], "proteinEffect": { "hgvs": "NP_065970.2:p.Gly668Ter", "hgvsWellDefined": "NP_065970.2:p.Gly668_Asn1657delinsTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670148", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264276.11:c.2002G>T" }, "RefSeq": { "hgvs": "NM_020919.4:c.2002G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264276.6:p.Gly668Ter" }, "RefSeq": { "hgvs": "NP_065970.2:p.Gly668Ter" } } } } ], "type": "nucleotide" }