{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA340248", "communityStandardTitle": [ "NM_020919.4(ALS2):c.2992C>T (p.Arg998Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19452[alleleid]", "alleleId": 19452, "preferredName": "NM_020919.4(ALS2):c.2992C>T (p.Arg998Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4413", "RCV": [ "RCV000004663" ], "variationId": 4413 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.202591577G>A?assembly=hg19", "id": "chr2:g.202591577G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.201726854G>A?assembly=hg38", "id": "chr2:g.201726854G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908137", "rs": 121908137 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-202591577-G-A?dataset=gnomad_r2_1", "id": "2-202591577-G-A", "variant": "2:202591577 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-201726854-G-A?dataset=gnomad_r3", "id": "2-201726854-G-A", "variant": "2:201726854 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-201726854-G-A?dataset=gnomad_r4", "id": "2-201726854-G-A", "variant": "2:201726854 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 201726854, "referenceAllele": "G", "start": 201726853 } ], "hgvs": [ "NC_000002.12:g.201726854G>A", "CM000664.2:g.201726854G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 202591577, "referenceAllele": "G", "start": 202591576 } ], "hgvs": [ "NC_000002.11:g.202591577G>A", "CM000664.1:g.202591577G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 202299822, "referenceAllele": "G", "start": 202299821 } ], "hgvs": [ "NC_000002.10:g.202299822G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 59319, "referenceAllele": "C", "start": 59318 } ], "hgvs": [ "NG_008775.1:g.59319C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001208" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3109, "referenceAllele": "C", "start": 3108 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000264276.11:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000264276.6:p.Arg998Ter", "hgvsWellDefined": "ENSP00000264276.6:p.Arg998_Asn1657delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742652", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264276.11:c.2992C>T" }, "RefSeq": { "hgvs": "NM_020919.4:c.2992C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264276.6:p.Arg998Ter" }, "RefSeq": { "hgvs": "NP_065970.2:p.Arg998Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1111, "referenceAllele": "C", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000439495.6:c.670C>T" ], "proteinEffect": { "hgvs": "ENSP00000403832.2:p.Arg224Ter", "hgvsWellDefined": "ENSP00000403832.2:p.Arg224_Ser539delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuTrpSerLeuThrLeuSerProArgLeuAspCysSerGlyValIleSerAlaHisCysAsnLeuHisLeuProGlySerSerAspSerProAlaSerAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755751" }, { "coordinates": [ { "allele": "T", "end": 3760, "referenceAllele": "C", "start": 3759 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000482891.6:n.3760C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757424" }, { "coordinates": [ { "allele": "T", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000494017.6:n.724C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757757" }, { "coordinates": [ { "allele": "T", "end": 1111, "referenceAllele": "C", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679409.1:c.670C>T" ], "proteinEffect": { "hgvs": "ENSP00000506531.1:p.Arg224Ter", "hgvsWellDefined": "ENSP00000506531.1:p.Arg224_Leu490delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysAspAsnSerGlyLeuIleGluGlnValGlyLysCysSerLeuLeuProTyrPheLeuLysValCysGluAlaLeuValLeuPheLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779040" }, { "coordinates": [ { "allele": "T", "end": 4496, "referenceAllele": "C", "start": 4495 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679416.1:n.4496C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779047" }, { "coordinates": [ { "allele": "T", "end": 3334, "referenceAllele": "C", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679435.1:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000505218.1:p.Arg998Ter", "hgvsWellDefined": "ENSP00000505218.1:p.Arg998_Asn1657delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779066" }, { "coordinates": [ { "allele": "T", "end": 3250, "referenceAllele": "C", "start": 3249 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679516.1:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000505187.1:p.Arg998Ter", "hgvsWellDefined": "ENSP00000505187.1:p.Arg998_Asn1657delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779146" }, { "coordinates": [ { "allele": "T", "end": 3338, "referenceAllele": "C", "start": 3337 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679618.1:c.*80C>T" ], "proteinEffect": { "hgvs": "ENSP00000506274.1:n.*80C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779246" }, { "coordinates": [ { "allele": "T", "end": 4841, "referenceAllele": "C", "start": 4840 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679630.1:n.4841C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779258" }, { "coordinates": [ { "allele": "T", "end": 3106, "referenceAllele": "C", "start": 3105 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679686.1:n.3106C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779313" }, { "coordinates": [ { "allele": "T", "end": 4841, "referenceAllele": "C", "start": 4840 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679701.1:n.4841C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779328" }, { "coordinates": [ { "allele": "T", "end": 3334, "referenceAllele": "C", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679916.1:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000506172.1:p.Arg998Ter", "hgvsWellDefined": "ENSP00000506172.1:p.Arg998_Leu1264delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysAspAsnSerGlyLeuIleGluGlnValGlyLysCysSerLeuLeuProTyrPheLeuLysValCysGluAlaLeuValLeuPheLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779538" }, { "coordinates": [ { "allele": "T", "end": 3334, "referenceAllele": "C", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680000.1:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000506173.1:p.Arg998Ter", "hgvsWellDefined": "ENSP00000506173.1:p.Arg998_Ile1651delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysValSerIleValIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779622" }, { "coordinates": [ { "allele": "T", "end": 3272, "referenceAllele": "C", "start": 3271 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680135.1:c.*956C>T" ], "proteinEffect": { "hgvs": "ENSP00000506211.1:n.*956C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779756" }, { "coordinates": [ { "allele": "T", "end": 3334, "referenceAllele": "C", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680149.1:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000506497.1:p.Arg998Ter", "hgvsWellDefined": "ENSP00000506497.1:p.Arg998_Thr1564delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleArgGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779769" }, { "coordinates": [ { "allele": "T", "end": 3376, "referenceAllele": "C", "start": 3375 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680163.1:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000505092.1:p.Arg998Ter", "hgvsWellDefined": "ENSP00000505092.1:p.Arg998_Asn1657delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779783" }, { "coordinates": [ { "allele": "T", "end": 3683, "referenceAllele": "C", "start": 3682 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680174.1:n.3683C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779794" }, { "coordinates": [ { "allele": "T", "end": 3263, "referenceAllele": "C", "start": 3262 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680236.1:c.*53C>T" ], "proteinEffect": { "hgvs": "ENSP00000506212.1:n.*53C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779856" }, { "coordinates": [ { "allele": "T", "end": 3352, "referenceAllele": "C", "start": 3351 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680497.1:c.3094C>T" ], "proteinEffect": { "hgvs": "ENSP00000505954.1:p.Arg1032Ter", "hgvsWellDefined": "ENSP00000505954.1:p.Arg1032_Asn1691delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780113" }, { "coordinates": [ { "allele": "T", "end": 3334, "referenceAllele": "C", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680508.1:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000505749.1:p.Arg998Ter", "hgvsWellDefined": "ENSP00000505749.1:p.Arg998_Asp1620delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaSerIlePhePheSerLeuGlyGlnAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780124" }, { "coordinates": [ { "allele": "T", "end": 3424, "referenceAllele": "C", "start": 3423 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680569.1:c.*703C>T" ], "proteinEffect": { "hgvs": "ENSP00000505522.1:n.*703C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780184" }, { "coordinates": [ { "allele": "T", "end": 3424, "referenceAllele": "C", "start": 3423 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680630.1:n.3424C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780245" }, { "coordinates": [ { "allele": "T", "end": 20, "endIntronDirection": "-", "endIntronOffset": 6364, "referenceAllele": "C", "start": 20, "startIntronDirection": "-", "startIntronOffset": 6365 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680634.1:n.21-6365C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780249" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680722.1:n.792C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780337" }, { "coordinates": [ { "allele": "T", "end": 2632, "referenceAllele": "C", "start": 2631 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680723.1:n.2632C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780338" }, { "coordinates": [ { "allele": "T", "end": 3334, "referenceAllele": "C", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680726.1:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000505505.1:p.Arg998Ter", "hgvsWellDefined": "ENSP00000505505.1:p.Arg998_Thr1565delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleArgGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780341" }, { "coordinates": [ { "allele": "T", "end": 3263, "referenceAllele": "C", "start": 3262 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680737.1:n.3263C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780352" }, { "coordinates": [ { "allele": "T", "end": 3334, "referenceAllele": "C", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680759.1:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000505848.1:p.Arg998Ter", "hgvsWellDefined": "ENSP00000505848.1:p.Arg998_Asn1601delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780374" }, { "coordinates": [ { "allele": "T", "end": 3334, "referenceAllele": "C", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680814.1:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000505710.1:p.Arg998Ter", "hgvsWellDefined": "ENSP00000505710.1:p.Arg998_Glu1614delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780429" }, { "coordinates": [ { "allele": "T", "end": 3153, "referenceAllele": "C", "start": 3152 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680828.1:c.*564C>T" ], "proteinEffect": { "hgvs": "ENSP00000505249.1:n.*564C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780443" }, { "coordinates": [ { "allele": "T", "end": 3483, "referenceAllele": "C", "start": 3482 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680861.1:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000505043.1:p.Arg998Ter", "hgvsWellDefined": "ENSP00000505043.1:p.Arg998_Asn1657delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780475" }, { "coordinates": [ { "allele": "T", "end": 3334, "referenceAllele": "C", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680927.1:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000505473.1:p.Arg998Ter", "hgvsWellDefined": "ENSP00000505473.1:p.Arg998_Ser1313delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuTrpSerLeuThrLeuSerProArgLeuAspCysSerGlyValIleSerAlaHisCysAsnLeuHisLeuProGlySerSerAspSerProAlaSerAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780541" }, { "coordinates": [ { "allele": "T", "end": 3334, "referenceAllele": "C", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680939.1:n.3334C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780553" }, { "coordinates": [ { "allele": "T", "end": 3952, "referenceAllele": "C", "start": 3951 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681152.1:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000505388.1:p.Arg998Ter", "hgvsWellDefined": "ENSP00000505388.1:p.Arg998_Asn1237delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysValGlyAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780764" }, { "coordinates": [ { "allele": "T", "end": 1813, "endIntronDirection": "-", "endIntronOffset": 1399, "referenceAllele": "C", "start": 1813, "startIntronDirection": "-", "startIntronOffset": 1400 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681250.1:c.1472-1400C>T" ], "proteinEffect": { "hgvs": "ENSP00000505684.1:n.1472-1400C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780861" }, { "coordinates": [ { "allele": "T", "end": 3407, "referenceAllele": "C", "start": 3406 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681256.1:c.*1010C>T" ], "proteinEffect": { "hgvs": "ENSP00000505446.1:n.*1010C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780867" }, { "coordinates": [ { "allele": "T", "end": 3760, "referenceAllele": "C", "start": 3759 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681279.1:n.3760C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780890" }, { "coordinates": [ { "allele": "T", "end": 3132, "referenceAllele": "C", "start": 3131 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681303.1:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000505576.1:p.Arg998Ter", "hgvsWellDefined": "ENSP00000505576.1:p.Arg998_Asn1237delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysValGlyAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780914" }, { "coordinates": [ { "allele": "T", "end": 4105, "referenceAllele": "C", "start": 4104 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681307.1:n.4105C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780918" }, { "coordinates": [ { "allele": "T", "end": 3760, "referenceAllele": "C", "start": 3759 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681461.1:n.3760C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781068" }, { "coordinates": [ { "allele": "T", "end": 973, "referenceAllele": "C", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681495.1:c.532C>T" ], "proteinEffect": { "hgvs": "ENSP00000506085.1:p.Arg178Ter", "hgvsWellDefined": "ENSP00000506085.1:p.Arg178_Asn836delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781101" }, { "coordinates": [ { "allele": "T", "end": 1111, "referenceAllele": "C", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681558.1:c.670C>T" ], "proteinEffect": { "hgvs": "ENSP00000505568.1:p.Arg224Ter", "hgvsWellDefined": "ENSP00000505568.1:p.Arg224_Asn883delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781164" }, { "coordinates": [ { "allele": "T", "end": 3334, "referenceAllele": "C", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681619.1:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000505071.1:p.Arg998Ter", "hgvsWellDefined": "ENSP00000505071.1:p.Arg998_Asn1656delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781225" }, { "coordinates": [ { "allele": "T", "end": 3424, "referenceAllele": "C", "start": 3423 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681716.1:c.*703C>T" ], "proteinEffect": { "hgvs": "ENSP00000505078.1:n.*703C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781320" }, { "coordinates": [ { "allele": "T", "end": 3334, "referenceAllele": "C", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681758.1:n.3334C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781361" }, { "coordinates": [ { "allele": "T", "end": 3437, "referenceAllele": "C", "start": 3436 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681768.1:c.*656C>T" ], "proteinEffect": { "hgvs": "ENSP00000506311.1:n.*656C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781371" }, { "coordinates": [ { "allele": "T", "end": 3334, "referenceAllele": "C", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000681808.1:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000505219.1:p.Arg998Ter", "hgvsWellDefined": "ENSP00000505219.1:p.Arg998_Asn1598delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781410" }, { "coordinates": [ { "allele": "T", "end": 3365, "referenceAllele": "C", "start": 3364 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000264276.10:c.2992C>T" ], "proteinEffect": { "hgvs": "ENSP00000264276.6:p.Arg998Ter", "hgvsWellDefined": "ENSP00000264276.6:p.Arg998_Asn1657delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251471" }, { "coordinates": [ { "allele": "T", "end": 953, "referenceAllele": "C", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000439495.5:c.953C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS295450" }, { "coordinates": [ { "allele": "T", "end": 3132, "referenceAllele": "C", "start": 3131 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000482891.5:n.3132C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322483" }, { "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000494017.5:n.519C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331047" }, { "@id": "http://reg.genome.network/allele/PA340249", "coordinates": [ { "allele": "T", "end": 3348, "referenceAllele": "C", "start": 3347 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "NM_020919.3:c.2992C>T" ], "proteinEffect": { "hgvs": "NP_065970.2:p.Arg998Ter", "hgvsWellDefined": "NP_065970.2:p.Arg998_Asn1657delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036690" }, { "coordinates": [ { "allele": "T", "end": 3127, "referenceAllele": "C", "start": 3126 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_005246709.2:c.2992C>T" ], "proteinEffect": { "hgvs": "XP_005246766.1:p.Arg998Ter", "hgvsWellDefined": "XP_005246766.1:p.Arg998_Asn1656delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057757" }, { "coordinates": [ { "allele": "T", "end": 3157, "referenceAllele": "C", "start": 3156 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712654.1:c.2992C>T" ], "proteinEffect": { "hgvs": "XP_006712717.1:p.Arg998Ter", "hgvsWellDefined": "XP_006712717.1:p.Arg998_Asn1657delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069756" }, { "coordinates": [ { "allele": "T", "end": 1083, "referenceAllele": "C", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712655.2:c.928C>T" ], "proteinEffect": { "hgvs": "XP_006712718.1:p.Arg310Ter", "hgvsWellDefined": "XP_006712718.1:p.Arg310_Asn969delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069757" }, { "coordinates": [ { "allele": "T", "end": 3071, "referenceAllele": "C", "start": 3070 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_011511530.1:c.2653C>T" ], "proteinEffect": { "hgvs": "XP_011509832.1:p.Arg885Ter", "hgvsWellDefined": "XP_011509832.1:p.Arg885_Asn1544delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078791" }, { "coordinates": [ { "allele": "T", "end": 3127, "referenceAllele": "C", "start": 3126 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_011511531.1:c.2992C>T" ], "proteinEffect": { "hgvs": "XP_011509833.1:p.Arg998Ter", "hgvsWellDefined": "XP_011509833.1:p.Arg998_Gln1342delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerLeuGlnAspLeuLeuTrpGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078792" }, { "coordinates": [ { "allele": "T", "end": 3127, "referenceAllele": "C", "start": 3126 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_922974.1:n.3127C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS120036" }, { "coordinates": [ { "allele": "T", "end": 3952, "referenceAllele": "C", "start": 3951 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712654.3:c.2992C>T" ], "proteinEffect": { "hgvs": "XP_006712717.1:p.Arg998Ter", "hgvsWellDefined": "XP_006712717.1:p.Arg998_Asn1657delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538316" }, { "coordinates": [ { "allele": "T", "end": 1562, "referenceAllele": "C", "start": 1561 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712655.3:c.928C>T" ], "proteinEffect": { "hgvs": "XP_006712718.1:p.Arg310Ter", "hgvsWellDefined": "XP_006712718.1:p.Arg310_Asn969delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538317" }, { "coordinates": [ { "allele": "T", "end": 3127, "referenceAllele": "C", "start": 3126 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_017004569.2:c.2992C>T" ], "proteinEffect": { "hgvs": "XP_016860058.1:p.Arg998Ter", "hgvsWellDefined": "XP_016860058.1:p.Arg998_Asn1656delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560036" }, { "coordinates": [ { "allele": "T", "end": 3127, "referenceAllele": "C", "start": 3126 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_017004570.2:c.2992C>T" ], "proteinEffect": { "hgvs": "XP_016860059.1:p.Arg998Ter", "hgvsWellDefined": "XP_016860059.1:p.Arg998_Gln1342delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerLeuGlnAspLeuLeuTrpGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560037" }, { "coordinates": [ { "allele": "T", "end": 2348, "referenceAllele": "C", "start": 2347 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_017004572.2:c.610C>T" ], "proteinEffect": { "hgvs": "XP_016860061.1:p.Arg204Ter", "hgvsWellDefined": "XP_016860061.1:p.Arg204_Asn863delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560038" }, { "coordinates": [ { "allele": "T", "end": 3504, "referenceAllele": "C", "start": 3503 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_024453024.1:c.2653C>T" ], "proteinEffect": { "hgvs": "XP_024308792.1:p.Arg885Ter", "hgvsWellDefined": "XP_024308792.1:p.Arg885_Asn1544delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586411" }, { "coordinates": [ { "allele": "T", "end": 2183, "referenceAllele": "C", "start": 2182 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_024453025.1:c.928C>T" ], "proteinEffect": { "hgvs": "XP_024308793.1:p.Arg310Ter", "hgvsWellDefined": "XP_024308793.1:p.Arg310_Asn968delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586412" }, { "coordinates": [ { "allele": "T", "end": 3127, "referenceAllele": "C", "start": 3126 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_001738864.2:n.3127C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589304" }, { "coordinates": [ { "allele": "T", "end": 3127, "referenceAllele": "C", "start": 3126 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_001738865.2:n.3127C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589305" }, { "coordinates": [ { "allele": "T", "end": 3127, "referenceAllele": "C", "start": 3126 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_001738866.2:n.3127C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589306" }, { "coordinates": [ { "allele": "T", "end": 3127, "referenceAllele": "C", "start": 3126 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_001738867.2:n.3127C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589307" }, { "coordinates": [ { "allele": "T", "end": 2183, "referenceAllele": "C", "start": 2182 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_002959320.1:n.2183C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605253" }, { "@id": "http://reg.genome.network/allele/PA340249", "coordinates": [ { "allele": "T", "end": 3109, "referenceAllele": "C", "start": 3108 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "NM_020919.4:c.2992C>T" ], "proteinEffect": { "hgvs": "NP_065970.2:p.Arg998Ter", "hgvsWellDefined": "NP_065970.2:p.Arg998_Asn1657delinsAlaIleSerGlnAlaValAspGlnAlaLeuArgGlyMetSerAspLeuProProTyrGlySerGlySerSerValGlnArgGlnGluProProIleSerArgSerAlaLysTyrThrPheTyrLysAspProArgLeuLysAspAlaThrTyrAspGlyArgTrpLeuSerGlyLysProHisGlyArgGlyValLeuLysTrpProAspGlyLysMetTyrSerGlyMetPheArgAsnGlyLeuGluAspGlyTyrGlyGluTyrArgIleProAsnLysAlaMetAsnLysGluAspHisTyrValGlyHisTrpLysGluGlyLysMetCysGlyGlnGlyValTyrSerTyrAlaSerGlyGluValPheGluGlyCysPheGlnAspAsnMetArgHisGlyHisGlyLeuLeuArgSerGlyLysLeuThrSerSerSerProSerMetPheIleGlyGlnTrpValMetAspLysLysAlaGlyTyrGlyValPheAspAspIleThrArgGlyGluLysTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670148", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264276.11:c.2992C>T" }, "RefSeq": { "hgvs": "NM_020919.4:c.2992C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264276.6:p.Arg998Ter" }, "RefSeq": { "hgvs": "NP_065970.2:p.Arg998Ter" } } } } ], "type": "nucleotide" }