{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA236114", "communityStandardTitle": [ "NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106525[alleleid]", "alleleId": 106525, "preferredName": "NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100653", "RCV": [ "RCV000087053", "RCV001095478", "RCV000171328" ], "variationId": 100653 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.202593315G>A?assembly=hg19", "id": "chr2:g.202593315G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.201728592G>A?assembly=hg38", "id": "chr2:g.201728592G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587777132", "rs": 587777132 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-201728592-G-A?dataset=gnomad_r4", "id": "2-201728592-G-A", "variant": "2:201728592 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 201728592, "referenceAllele": "G", "start": 201728591 } ], "hgvs": [ "NC_000002.12:g.201728592G>A", "CM000664.2:g.201728592G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 202593315, "referenceAllele": "G", "start": 202593314 } ], "hgvs": [ "NC_000002.11:g.202593315G>A", "CM000664.1:g.202593315G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 202301560, "referenceAllele": "G", "start": 202301559 } ], "hgvs": [ "NC_000002.10:g.202301560G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 57581, "referenceAllele": "C", "start": 57580 } ], "hgvs": [ "NG_008775.1:g.57581C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001208" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2878, "referenceAllele": "C", "start": 2877 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000264276.11:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000264276.6:p.Arg921Ter", "hgvsWellDefined": "ENSP00000264276.6:p.Arg921_Asn1657delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742652", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264276.11:c.2761C>T" }, "RefSeq": { "hgvs": "NM_020919.4:c.2761C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264276.6:p.Arg921Ter" }, "RefSeq": { "hgvs": "NP_065970.2:p.Arg921Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 880, "referenceAllele": "C", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000439495.6:c.439C>T" ], "proteinEffect": { "hgvs": "ENSP00000403832.2:p.Arg147Ter", "hgvsWellDefined": "ENSP00000403832.2:p.Arg147_Ser539delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuTrpSerLeuThrLeuSerProArgLeuAspCysSerGlyValIleSerAlaHisCysAsnLeuHisLeuProGlySerSerAspSerProAlaSerAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755751" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000482891.6:n.3103C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757424" }, { "coordinates": [ { "allele": "T", "end": 493, "referenceAllele": "C", "start": 492 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000494017.6:n.493C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757757" }, { "coordinates": [ { "allele": "T", "end": 880, "referenceAllele": "C", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679409.1:c.439C>T" ], "proteinEffect": { "hgvs": "ENSP00000506531.1:p.Arg147Ter", "hgvsWellDefined": "ENSP00000506531.1:p.Arg147_Leu490delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysAspAsnSerGlyLeuIleGluGlnValGlyLysCysSerLeuLeuProTyrPheLeuLysValCysGluAlaLeuValLeuPheLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779040" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679416.1:n.3103C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779047" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679435.1:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000505218.1:p.Arg921Ter", "hgvsWellDefined": "ENSP00000505218.1:p.Arg921_Asn1657delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779066" }, { "coordinates": [ { "allele": "T", "end": 3019, "referenceAllele": "C", "start": 3018 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679516.1:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000505187.1:p.Arg921Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS779146" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679618.1:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000506274.1:p.Arg921Ter", "hgvsWellDefined": "ENSP00000506274.1:p.Arg921_Val971delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779246" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679630.1:n.3103C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779258" }, { "coordinates": [ { "allele": "T", "end": 2875, "referenceAllele": "C", "start": 2874 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679686.1:n.2875C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779313" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679701.1:n.3103C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779328" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679916.1:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000506172.1:p.Arg921Ter", "hgvsWellDefined": "ENSP00000506172.1:p.Arg921_Leu1264delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysAspAsnSerGlyLeuIleGluGlnValGlyLysCysSerLeuLeuProTyrPheLeuLysValCysGluAlaLeuValLeuPheLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779538" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680000.1:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000506173.1:p.Arg921Ter", "hgvsWellDefined": "ENSP00000506173.1:p.Arg921_Ile1651delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysValSerIleValIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779622" }, { "coordinates": [ { "allele": "T", "end": 3041, "referenceAllele": "C", "start": 3040 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680135.1:c.*725C>T" ], "proteinEffect": { "hgvs": "ENSP00000506211.1:n.*725C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779756" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680149.1:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000506497.1:p.Arg921Ter", "hgvsWellDefined": "ENSP00000506497.1:p.Arg921_Thr1564delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleArgGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779769" }, { "coordinates": [ { "allele": "T", "end": 3145, "referenceAllele": "C", "start": 3144 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680163.1:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000505092.1:p.Arg921Ter", "hgvsWellDefined": "ENSP00000505092.1:p.Arg921_Asn1657delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779783" }, { "coordinates": [ { "allele": "T", "end": 3452, "referenceAllele": "C", "start": 3451 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680174.1:n.3452C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779794" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680236.1:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000506212.1:p.Arg921Ter", "hgvsWellDefined": "ENSP00000506212.1:p.Arg921_Thr955delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnGluTrpLeuLysAspAsnTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779856" }, { "coordinates": [ { "allele": "T", "end": 3121, "referenceAllele": "C", "start": 3120 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680497.1:c.2863C>T" ], "proteinEffect": { "hgvs": "ENSP00000505954.1:p.Arg955Ter", "hgvsWellDefined": "ENSP00000505954.1:p.Arg955_Asn1691delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780113" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680508.1:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000505749.1:p.Arg921Ter", "hgvsWellDefined": "ENSP00000505749.1:p.Arg921_Asp1620delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaSerIlePhePheSerLeuGlyGlnAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780124" }, { "coordinates": [ { "allele": "T", "end": 3193, "referenceAllele": "C", "start": 3192 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680569.1:c.*472C>T" ], "proteinEffect": { "hgvs": "ENSP00000505522.1:n.*472C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780184" }, { "coordinates": [ { "allele": "T", "end": 3193, "referenceAllele": "C", "start": 3192 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680630.1:n.3193C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780245" }, { "coordinates": [ { "allele": "T", "end": 20, "endIntronDirection": "-", "endIntronOffset": 8102, "referenceAllele": "C", "start": 20, "startIntronDirection": "-", "startIntronOffset": 8103 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680634.1:n.21-8103C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780249" }, { "coordinates": [ { "allele": "T", "end": 561, "referenceAllele": "C", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680722.1:n.561C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780337" }, { "coordinates": [ { "allele": "T", "end": 894, "referenceAllele": "C", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680723.1:n.894C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780338" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680726.1:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000505505.1:p.Arg921Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS780541" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680939.1:n.3103C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780553" }, { "coordinates": [ { "allele": "T", "end": 3721, "referenceAllele": "C", "start": 3720 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681152.1:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000505388.1:p.Arg921Ter", "hgvsWellDefined": 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"ENSP00000505576.1:p.Arg921_Asn1237delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysValGlyAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780914" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681307.1:n.3103C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780918" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681461.1:n.3103C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781068" }, { "coordinates": [ { "allele": "T", "end": 880, "referenceAllele": "C", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681495.1:c.439C>T" ], "proteinEffect": { "hgvs": "ENSP00000506085.1:p.Arg147Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS781101" }, { "coordinates": [ { "allele": "T", "end": 880, "referenceAllele": "C", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681558.1:c.439C>T" ], "proteinEffect": { "hgvs": "ENSP00000505568.1:p.Arg147Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS781164" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681619.1:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000505071.1:p.Arg921Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS781225" }, { "coordinates": [ { "allele": "T", "end": 3193, "referenceAllele": "C", "start": 3192 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681716.1:c.*472C>T" ], "proteinEffect": { "hgvs": "ENSP00000505078.1:n.*472C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781320" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681758.1:n.3103C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781361" }, { "coordinates": [ { "allele": "T", "end": 3206, "referenceAllele": "C", "start": 3205 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681768.1:c.*425C>T" ], "proteinEffect": { "hgvs": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS781410" }, { "coordinates": [ { "allele": "T", "end": 3134, "referenceAllele": "C", "start": 3133 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000264276.10:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000264276.6:p.Arg921Ter", "hgvsWellDefined": 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"XP_011509833.1:p.Arg921_Gln1342delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerLeuGlnAspLeuLeuTrpGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078792" }, { "coordinates": [ { "allele": "T", "end": 2896, "referenceAllele": "C", "start": 2895 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_922974.1:n.2896C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS120036" }, { "coordinates": [ { "allele": "T", "end": 3721, "referenceAllele": "C", "start": 3720 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712654.3:c.2761C>T" ], "proteinEffect": { "hgvs": "XP_006712717.1:p.Arg921Ter", "hgvsWellDefined": "XP_006712717.1:p.Arg921_Asn1657delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538316" }, { "coordinates": [ { "allele": "T", "end": 1331, "referenceAllele": "C", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712655.3:c.697C>T" ], "proteinEffect": { "hgvs": "XP_006712718.1:p.Arg233Ter", "hgvsWellDefined": "XP_006712718.1:p.Arg233_Asn969delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538317" }, { "coordinates": [ { "allele": "T", "end": 2896, "referenceAllele": "C", "start": 2895 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_017004569.2:c.2761C>T" ], "proteinEffect": { "hgvs": "XP_016860058.1:p.Arg921Ter", "hgvsWellDefined": "XP_016860058.1:p.Arg921_Asn1656delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560036" }, { "coordinates": [ { "allele": "T", "end": 2896, "referenceAllele": "C", "start": 2895 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_017004570.2:c.2761C>T" ], "proteinEffect": { "hgvs": "XP_016860059.1:p.Arg921Ter", "hgvsWellDefined": "XP_016860059.1:p.Arg921_Gln1342delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerLeuGlnAspLeuLeuTrpGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560037" }, { "coordinates": [ { "allele": "T", "end": 2117, "referenceAllele": "C", "start": 2116 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_017004572.2:c.379C>T" ], "proteinEffect": { "hgvs": "XP_016860061.1:p.Arg127Ter", "hgvsWellDefined": "XP_016860061.1:p.Arg127_Asn863delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560038" }, { "coordinates": [ { "allele": "T", "end": 3273, "referenceAllele": "C", "start": 3272 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_024453024.1:c.2422C>T" ], "proteinEffect": { "hgvs": "XP_024308792.1:p.Arg808Ter", "hgvsWellDefined": "XP_024308792.1:p.Arg808_Asn1544delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586411" }, { "coordinates": [ { "allele": "T", "end": 1952, "referenceAllele": "C", "start": 1951 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_024453025.1:c.697C>T" ], "proteinEffect": { "hgvs": "XP_024308793.1:p.Arg233Ter", "hgvsWellDefined": "XP_024308793.1:p.Arg233_Asn968delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586412" }, { "coordinates": [ { "allele": "T", "end": 2896, "referenceAllele": "C", "start": 2895 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_001738864.2:n.2896C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589304" }, { "coordinates": [ { "allele": "T", "end": 2896, "referenceAllele": "C", "start": 2895 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_001738865.2:n.2896C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589305" }, { "coordinates": [ { "allele": "T", "end": 2896, "referenceAllele": "C", "start": 2895 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_001738866.2:n.2896C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589306" }, { "coordinates": [ { "allele": "T", "end": 2896, "referenceAllele": "C", "start": 2895 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_001738867.2:n.2896C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589307" }, { "coordinates": [ { "allele": "T", "end": 1952, "referenceAllele": "C", "start": 1951 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_002959320.1:n.1952C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605253" }, { "@id": "http://reg.genome.network/allele/PA236115", "coordinates": [ { "allele": "T", "end": 2878, "referenceAllele": "C", "start": 2877 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "NM_020919.4:c.2761C>T" ], "proteinEffect": { "hgvs": "NP_065970.2:p.Arg921Ter", "hgvsWellDefined": "NP_065970.2:p.Arg921_Asn1657delinsAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValAsnGlyLeuLysIleThrThrProGluGluGlnPheThrLeuIleSerSerThrProGlnGluLysThrLysTrpLeuArgAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670148", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264276.11:c.2761C>T" }, "RefSeq": { "hgvs": "NM_020919.4:c.2761C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264276.6:p.Arg921Ter" }, "RefSeq": { "hgvs": "NP_065970.2:p.Arg921Ter" } } } } ], "type": "nucleotide" }