{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA350328505", "communityStandardTitle": [ "NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1733809", "active": true, "id": "COSM1733809" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1733810", "active": true, "id": "COSM1733810" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=792726[alleleid]", "alleleId": 792726, "preferredName": "NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/804392", "RCV": [ "RCV000991371", "RCV000995488", "RCV001030773" ], "variationId": 804392 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.202626116G>A?assembly=hg19", "id": "chr2:g.202626116G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.201761393G>A?assembly=hg38", "id": "chr2:g.201761393G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1574787779", "rs": 1574787779 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-201761393-G-A?dataset=gnomad_r4", "id": "2-201761393-G-A", "variant": "2:201761393 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 201761393, "referenceAllele": "G", "start": 201761392 } ], "hgvs": [ "NC_000002.12:g.201761393G>A", "CM000664.2:g.201761393G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 202626116, "referenceAllele": "G", "start": 202626115 } ], "hgvs": [ "NC_000002.11:g.202626116G>A", "CM000664.1:g.202626116G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 202334361, "referenceAllele": "G", "start": 202334360 } ], "hgvs": [ "NC_000002.10:g.202334361G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 24780, "referenceAllele": "C", "start": 24779 } ], "hgvs": [ "NG_008775.1:g.24780C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001208" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 718, "referenceAllele": "C", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000264276.11:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000264276.6:p.Arg201Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS742652", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264276.11:c.601C>T" }, "RefSeq": { "hgvs": "NM_020919.4:c.601C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264276.6:p.Arg201Ter" }, "RefSeq": { "hgvs": "NP_065970.2:p.Arg201Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 737, "referenceAllele": "C", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000409632.7:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000386384.3:p.Arg201Ter", "hgvsWellDefined": "ENSP00000386384.3:p.Arg201_Lys396delinsValValLeuGlnValAlaCysGlyAlaPheHisSerLeuAlaLeuValGlnCysLeuProSerGlnAspLeuLysProValProGluArgCysAsnGlnCysSerGlnLeuLeuIleThrMetThrAspLysGluAspHisValIleIleSerAspSerHisCysCysProLeuGlyValThrLeuThrGluSerGlnAlaGluAsnHisAlaSerThrAlaLeuSerProSerThrGluThrLeuAspArgGlnGluGluValPheGluAsnThrLeuValAlaAsnAspGlnSerValAlaThrGluLeuAsnAlaValSerAlaGlnIleThrSerSerAspAlaMetSerSerGlnGlnAsnValMetGlyThrThrGluIleSerSerAlaArgAsnIleProSerTyrProAspThrGlnAlaValAsnGluTyrLeuArgLysLeuSerAspHisSerValArgGluAspSerGluHisGlyGluLysProValProSerGlnValProAlaGlnPheTyrLysIleLysValCysLeuGluLeuAsnCysMetGlyPheSerLeuGluThrLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754313" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000482789.6:n.943C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757417" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000482891.6:n.943C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757424" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679416.1:n.943C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779047" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679435.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000505218.1:p.Arg201Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS779066" }, { "coordinates": [ { "allele": "T", "end": 866, "referenceAllele": "C", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679503.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000505968.1:p.Arg201Ter", "hgvsWellDefined": "ENSP00000505968.1:p.Arg201_Lys396delinsValValLeuGlnValAlaCysGlyAlaPheHisSerLeuAlaLeuValGlnCysLeuProSerGlnAspLeuLysProValProGluArgCysAsnGlnCysSerGlnLeuLeuIleThrMetThrAspLysGluAspHisValIleIleSerAspSerHisCysCysProLeuGlyValThrLeuThrGluSerGlnAlaGluAsnHisAlaSerThrAlaLeuSerProSerThrGluThrLeuAspArgGlnGluGluValPheGluAsnThrLeuValAlaAsnAspGlnSerValAlaThrGluLeuAsnAlaValSerAlaGlnIleThrSerSerAspAlaMetSerSerGlnGlnAsnValMetGlyThrThrGluIleSerSerAlaArgAsnIleProSerTyrProAspThrGlnAlaValAsnGluTyrLeuArgLysLeuSerAspHisSerValArgGluAspSerGluHisGlyGluLysProValProSerGlnValProAlaGlnPheTyrLysIleLysValCysLeuGluLeuAsnCysMetGlyPheSerLeuGluThrLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779134" }, { "coordinates": [ { "allele": "T", "end": 859, "referenceAllele": "C", "start": 858 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679516.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000505187.1:p.Arg201Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS779146" }, { "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679550.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000506193.1:p.Arg201Ter", "hgvsWellDefined": "ENSP00000506193.1:p.Arg201_Asp812delinsValValLeuGlnValAlaCysGlyAlaPheHisSerLeuAlaLeuValGlnCysLeuProSerGlnAspLeuLysProValProGluArgCysAsnGlnCysSerGlnLeuLeuIleThrMetThrAspLysGluAspHisValIleIleSerAspSerHisCysCysProLeuGlyValThrLeuThrGluSerGlnAlaGluAsnHisAlaSerThrAlaLeuSerProSerThrGluThrLeuAspArgGlnGluGluValPheGluAsnThrLeuValAlaAsnAspGlnSerValAlaThrGluLeuAsnAlaValSerAlaGlnIleThrSerSerAspAlaMetSerSerGlnGlnAsnValMetGlyThrThrGluIleSerSerAlaArgAsnIleProSerTyrProAspThrGlnAlaValAsnGluTyrLeuArgLysLeuSerAspHisSerValArgGluAspSerGluHisGlyGluLysProValProSerGlnProLeuLeuGluGluAlaIleProAsnLeuHisSerProProThrThrSerThrSerAlaLeuAsnSerLeuValValSerCysAlaSerAlaValGlyValArgValAlaAlaThrTyrGluAlaGlyAlaLeuSerLeuLysLysValMetAsnPheTyrSerThrThrProCysGluThrGlyAlaGlnAlaGlySerSerAlaIleGlyProGluGlyLeuLysAspSerArgGluGluGlnValLysGlnGluSerMetGlnGlyLysLysSerSerSerLeuValAspIleArgGluGluGluThrGluGlyGlySerArgArgLeuSerLeuProGlyLeuLeuSerGlnValSerProArgLeuLeuArgLysAlaAlaArgValLysThrArgThrValValLeuThrProThrTyrSerGlyGluAlaAspAlaLeuLeuProSerLeuArgThrGluValTrpThrTrpGlyLysGlyLysGluGlyGlnLeuGlyHisGlyAspValLeuProArgLeuGlnProLeuCysValLysCysLeuAspGlyLysGluValIleHisLeuGluAlaGlyGlyTyrHisSerLeuAlaLeuThrAlaLysSerGlnValTyrSerTrpGlySerAsnThrPheGlyGlnLeuGlyHisSerAspPheProThrThrValProArgLeuAlaLysIleSerSerGluAsnGlyValTrpSerIleAlaAlaGlyArgAspTyrSerLeuPheLeuValAspThrGluAspPheGlnProGlyLeuTyrTyrSerGlyArgGlnAspProThrGluGlyAspAsnLeuProGluAsnHisSerGlySerLysThrProValLeuLeuSerCysSerLysLeuGlyTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluGlnValSerSerProValSerCysSerIleSerAlaGlyLeuPheCysGlnGlyGluGlnLeuLeuAsnGlnLysArgLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779179" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679618.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000506274.1:p.Arg201Ter", "hgvsWellDefined": "ENSP00000506274.1:p.Arg201_Val971delinsValValLeuGlnValAlaCysGlyAlaPheHisSerLeuAlaLeuValGlnCysLeuProSerGlnAspLeuLysProValProGluArgCysAsnGlnCysSerGlnLeuLeuIleThrMetThrAspLysGluAspHisValIleIleSerAspSerHisCysCysProLeuGlyValThrLeuThrGluSerGlnAlaGluAsnHisAlaSerThrAlaLeuSerProSerThrGluThrLeuAspArgGlnGluGluValPheGluAsnThrLeuValAlaAsnAspGlnSerValAlaThrGluLeuAsnAlaValSerAlaGlnIleThrSerSerAspAlaMetSerSerGlnGlnAsnValMetGlyThrThrGluIleSerSerAlaArgAsnIleProSerTyrProAspThrGlnAlaValAsnGluTyrLeuArgLysLeuSerAspHisSerValArgGluAspSerGluHisGlyGluLysProValProSerGlnProLeuLeuGluGluAlaIleProAsnLeuHisSerProProThrThrSerThrSerAlaLeuAsnSerLeuValValSerCysAlaSerAlaValGlyValArgValAlaAlaThrTyrGluAlaGlyAlaLeuSerLeuLysLysValMetAsnPheTyrSerThrThrProCysGluThrGlyAlaGlnAlaGlySerSerAlaIleGlyProGluGlyLeuLysAspSerArgGluGluGlnValLysGlnGluSerMetGlnGlyLysLysSerSerSerLeuValAspIleArgGluGluGluThrGluGlyGlySerArgArgLeuSerLeuProGlyLeuLeuSerGlnValSerProArgLeuLeuArgLysAlaAlaArgValLysThrArgThrValValLeuThrProThrTyrSerGlyGluAlaAspAlaLeuLeuProSerLeuArgThrGluValTrpThrTrpGlyLysGlyLysGluGlyGlnLeuGlyHisGlyAspValLeuProArgLeuGlnProLeuCysValLysCysLeuAspGlyLysGluValIleHisLeuGluAlaGlyGlyTyrHisSerLeuAlaLeuThrAlaLysSerGlnValTyrSerTrpGlySerAsnThrPheGlyGlnLeuGlyHisSerAspPheProThrThrValProArgLeuAlaLysIleSerSerGluAsnGlyValTrpSerIleAlaAlaGlyArgAspTyrSerLeuPheLeuValAspThrGluAspPheGlnProGlyLeuTyrTyrSerGlyArgGlnAspProThrGluGlyAspAsnLeuProGluAsnHisSerGlySerLysThrProValLeuLeuSerCysSerLysLeuGlyTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnPheSerThrHisHisValPheProLeuAlaThrLeuTrpAlaGluProLeuSerGluGluAlaGlyGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779246" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679630.1:n.943C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779258" }, { "coordinates": [ { "allele": "T", "end": 715, "referenceAllele": "C", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679686.1:n.715C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779313" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679701.1:n.943C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779328" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679728.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000504981.1:p.Arg201Ter", "hgvsWellDefined": "ENSP00000504981.1:p.Arg201_Gln383delinsValValLeuGlnValAlaCysGlyAlaPheHisSerLeuAlaLeuValGlnCysLeuProSerGlnAspLeuLysProValProGluArgCysAsnGlnCysSerGlnLeuLeuIleThrMetThrAspLysGluAspHisValIleIleSerAspSerHisCysCysProLeuGlyValThrLeuThrGluSerGlnAlaGluAsnHisAlaSerThrAlaLeuSerProSerThrGluThrLeuAspArgGlnGluGluValPheGluAsnThrLeuValAlaAsnAspGlnSerValAlaThrGluLeuAsnAlaValSerAlaGlnIleThrSerSerAspAlaMetSerSerGlnGlnAsnValMetGlyThrThrGluIleSerSerAlaArgAsnIleProSerTyrProAspThrGlnAlaValAsnGluTyrLeuArgLysLeuSerAspHisSerValArgGluAspSerGluHisGlyGluLysProValProSerGlnMetGlySerCysSerValThrGlnAlaGlyValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779354" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679916.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000506172.1:p.Arg201Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS779538" }, { "coordinates": [ { "allele": "T", "end": 878, "referenceAllele": "C", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679939.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000505704.1:p.Arg201Ter", "hgvsWellDefined": "ENSP00000505704.1:p.Arg201_Asp812delinsValValLeuGlnValAlaCysGlyAlaPheHisSerLeuAlaLeuValGlnCysLeuProSerGlnAspLeuLysProValProGluArgCysAsnGlnCysSerGlnLeuLeuIleThrMetThrAspLysGluAspHisValIleIleSerAspSerHisCysCysProLeuGlyValThrLeuThrGluSerGlnAlaGluAsnHisAlaSerThrAlaLeuSerProSerThrGluThrLeuAspArgGlnGluGluValPheGluAsnThrLeuValAlaAsnAspGlnSerValAlaThrGluLeuAsnAlaValSerAlaGlnIleThrSerSerAspAlaMetSerSerGlnGlnAsnValMetGlyThrThrGluIleSerSerAlaArgAsnIleProSerTyrProAspThrGlnAlaValAsnGluTyrLeuArgLysLeuSerAspHisSerValArgGluAspSerGluHisGlyGluLysProValProSerGlnProLeuLeuGluGluAlaIleProAsnLeuHisSerProProThrThrSerThrSerAlaLeuAsnSerLeuValValSerCysAlaSerAlaValGlyValArgValAlaAlaThrTyrGluAlaGlyAlaLeuSerLeuLysLysValMetAsnPheTyrSerThrThrProCysGluThrGlyAlaGlnAlaGlySerSerAlaIleGlyProGluGlyLeuLysAspSerArgGluGluGlnValLysGlnGluSerMetGlnGlyLysLysSerSerSerLeuValAspIleArgGluGluGluThrGluGlyGlySerArgArgLeuSerLeuProGlyLeuLeuSerGlnValSerProArgLeuLeuArgLysAlaAlaArgValLysThrArgThrValValLeuThrProThrTyrSerGlyGluAlaAspAlaLeuLeuProSerLeuArgThrGluValTrpThrTrpGlyLysGlyLysGluGlyGlnLeuGlyHisGlyAspValLeuProArgLeuGlnProLeuCysValLysCysLeuAspGlyLysGluValIleHisLeuGluAlaGlyGlyTyrHisSerLeuAlaLeuThrAlaLysSerGlnValTyrSerTrpGlySerAsnThrPheGlyGlnLeuGlyHisSerAspPheProThrThrValProArgLeuAlaLysIleSerSerGluAsnGlyValTrpSerIleAlaAlaGlyArgAspTyrSerLeuPheLeuValAspThrGluAspPheGlnProGlyLeuTyrTyrSerGlyArgGlnAspProThrGluGlyAspAsnLeuProGluAsnHisSerGlySerLysThrProValLeuLeuSerCysSerLysLeuGlyTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluGlnValSerSerProValSerCysSerIleSerAlaGlyLeuPheCysGlnGlyGluGlnLeuLeuAsnGlnLysArgLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779561" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000679949.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000505232.1:p.Arg201Ter", "hgvsWellDefined": "ENSP00000505232.1:p.Arg201_Asp796delinsValValLeuGlnValAlaCysGlyAlaPheHisSerLeuAlaLeuValGlnCysLeuProSerGlnAspLeuLysProValProGluArgCysAsnGlnCysSerGlnLeuLeuIleThrMetThrAspLysGluAspHisValIleIleSerAspSerHisCysCysProLeuGlyValThrLeuThrGluSerGlnAlaGluAsnHisAlaSerThrAlaLeuSerProSerThrGluThrLeuAspArgGlnGluGluValPheGluAsnThrLeuValAlaAsnAspGlnSerValAlaThrGluLeuAsnAlaValSerAlaGlnIleThrSerSerAspAlaMetSerSerGlnGlnAsnValMetGlyThrThrGluIleSerSerAlaArgAsnIleProSerTyrProAspThrGlnAlaValAsnGluTyrLeuArgLysLeuSerAspHisSerValArgGluAspSerGluHisGlyGluLysProValProSerGlnProLeuLeuGluGluAlaIleProAsnLeuHisSerProProThrThrSerThrSerAlaLeuAsnSerLeuValValSerCysAlaSerAlaValGlyValArgValAlaAlaThrTyrGluAlaGlyAlaLeuSerLeuLysLysValMetAsnPheTyrSerThrThrProCysGluThrGlyAlaGlnAlaGlySerSerAlaIleGlyProGluGlyLeuLysAspSerArgGluGluGlnValLysGlnGluSerMetGlnGlyLysLysSerSerSerLeuValAspIleArgGluGluGluThrGluGlyGlySerArgArgLeuSerLeuProGlyLeuLeuSerGlnValValLeuThrProThrTyrSerGlyGluAlaAspAlaLeuLeuProSerLeuArgThrGluValTrpThrTrpGlyLysGlyLysGluGlyGlnLeuGlyHisGlyAspValLeuProArgLeuGlnProLeuCysValLysCysLeuAspGlyLysGluValIleHisLeuGluAlaGlyGlyTyrHisSerLeuAlaLeuThrAlaLysSerGlnValTyrSerTrpGlySerAsnThrPheGlyGlnLeuGlyHisSerAspPheProThrThrValProArgLeuAlaLysIleSerSerGluAsnGlyValTrpSerIleAlaAlaGlyArgAspTyrSerLeuPheLeuValAspThrGluAspPheGlnProGlyLeuTyrTyrSerGlyArgGlnAspProThrGluGlyAspAsnLeuProGluAsnHisSerGlySerLysThrProValLeuLeuSerCysSerLysLeuGlyTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluGlnValSerSerProValSerCysSerIleSerAlaGlyLeuPheCysGlnGlyGluGlnLeuLeuAsnGlnLysArgLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779571" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680000.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000506173.1:p.Arg201Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS779622" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680135.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000506211.1:p.Arg201Ter", "hgvsWellDefined": "ENSP00000506211.1:p.Arg201_Arg657delinsValValLeuGlnValAlaCysGlyAlaPheHisSerLeuAlaLeuValGlnCysLeuProSerGlnAspLeuLysProValProGluArgCysAsnGlnCysSerGlnLeuLeuIleThrMetThrAspLysGluAspHisValIleIleSerAspSerHisCysCysProLeuGlyValThrLeuThrGluSerGlnAlaGluAsnHisAlaSerThrAlaLeuSerProSerThrGluThrLeuAspArgGlnGluGluValPheGluAsnThrLeuValAlaAsnAspGlnSerValAlaThrGluLeuAsnAlaValSerAlaGlnIleThrSerSerAspAlaMetSerSerGlnGlnAsnValMetGlyThrThrGluIleSerSerAlaArgAsnIleProSerTyrProAspThrGlnAlaValAsnGluTyrLeuArgLysLeuSerAspHisSerValArgGluAspSerGluHisGlyGluLysProValProSerGlnProLeuLeuGluGluAlaIleProAsnLeuHisSerProProThrThrSerThrSerAlaLeuAsnSerLeuValValSerCysAlaSerAlaValGlyValArgValAlaAlaThrTyrGluAlaGlyAlaLeuSerLeuLysLysValMetAsnPheTyrSerThrThrProCysGluThrGlyAlaGlnAlaGlySerSerAlaIleGlyProGluGlyLeuLysAspSerArgGluGluGlnValLysGlnGluSerMetGlnGlyLysLysSerSerSerLeuValAspIleArgGluGluGluThrGluGlyGlySerArgArgLeuSerLeuProGlyLeuLeuSerGlnValSerProArgLeuLeuArgLysAlaAlaArgValLysThrArgThrValValLeuThrProThrTyrSerGlyGluAlaAspAlaLeuLeuProSerLeuArgThrGluValTrpThrTrpGlyLysGlyLysGluGlyGlnLeuGlyHisGlyAspValLeuProArgLeuGlnProLeuCysValLysCysLeuAspGlyLysGluValIleHisLeuGluAlaGlyGlyTyrHisSerLeuAlaLeuThrAlaLysSerGlnValTyrSerTrpGlySerAsnThrPheGlyGlnLeuGlyHisSerAspPheProThrThrValProArgLeuAlaLysIleSerSerGluAsnGlyValTrpSerIleAlaAlaGlyArgAspTyrSerLeuPheLeuValAspThrGluAspPheGlnProGlyLeuTyrTyrSerGlyArgGlnAspProThrGluAlaTrpIleTyrLysGlnSerAspSerArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779756" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680149.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000506497.1:p.Arg201Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS779769" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680163.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000505092.1:p.Arg201Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS779783" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680174.1:n.943C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779794" }, { "coordinates": [ { "allele": "T", "end": 999, "referenceAllele": "C", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680188.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000505665.1:p.Arg201Ter", "hgvsWellDefined": "ENSP00000505665.1:p.Arg201_Lys396delinsValValLeuGlnValAlaCysGlyAlaPheHisSerLeuAlaLeuValGlnCysLeuProSerGlnAspLeuLysProValProGluArgCysAsnGlnCysSerGlnLeuLeuIleThrMetThrAspLysGluAspHisValIleIleSerAspSerHisCysCysProLeuGlyValThrLeuThrGluSerGlnAlaGluAsnHisAlaSerThrAlaLeuSerProSerThrGluThrLeuAspArgGlnGluGluValPheGluAsnThrLeuValAlaAsnAspGlnSerValAlaThrGluLeuAsnAlaValSerAlaGlnIleThrSerSerAspAlaMetSerSerGlnGlnAsnValMetGlyThrThrGluIleSerSerAlaArgAsnIleProSerTyrProAspThrGlnAlaValAsnGluTyrLeuArgLysLeuSerAspHisSerValArgGluAspSerGluHisGlyGluLysProValProSerGlnValProAlaGlnPheTyrLysIleLysValCysLeuGluLeuAsnCysMetGlyPheSerLeuGluThrLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779808" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680236.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000506212.1:p.Arg201Ter", 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"ENSP00000506212.1:p.Arg201_Thr955delinsValValLeuGlnValAlaCysGlyAlaPheHisSerLeuAlaLeuValGlnCysLeuProSerGlnAspLeuLysProValProGluArgCysAsnGlnCysSerGlnLeuLeuIleThrMetThrAspLysGluAspHisValIleIleSerAspSerHisCysCysProLeuGlyValThrLeuThrGluSerGlnAlaGluAsnHisAlaSerThrAlaLeuSerProSerThrGluThrLeuAspArgGlnGluGluValPheGluAsnThrLeuValAlaAsnAspGlnSerValAlaThrGluLeuAsnAlaValSerAlaGlnIleThrSerSerAspAlaMetSerSerGlnGlnAsnValMetGlyThrThrGluIleSerSerAlaArgAsnIleProSerTyrProAspThrGlnAlaValAsnGluTyrLeuArgLysLeuSerAspHisSerValArgGluAspSerGluHisGlyGluLysProValProSerGlnProLeuLeuGluGluAlaIleProAsnLeuHisSerProProThrThrSerThrSerAlaLeuAsnSerLeuValValSerCysAlaSerAlaValGlyValArgValAlaAlaThrTyrGluAlaGlyAlaLeuSerLeuLysLysValMetAsnPheTyrSerThrThrProCysGluThrGlyAlaGlnAlaGlySerSerAlaIleGlyProGluGlyLeuLysAspSerArgGluGluGlnValLysGlnGluSerMetGlnGlyLysLysSerSerSerLeuValAspIleArgGluGluGluThrGluGlyGlySerArgArgLeuSerLeuProGlyLeuLeuSerGlnValSerProArgLeuLeuArgLysAlaAlaArgValLysThrArgThrValValLeuThrProThrTyrSerGlyGluAlaAspAlaLeuLeuProSerLeuArgThrGluValTrpThrTrpGlyLysGlyLysGluGlyGlnLeuGlyHisGlyAspValLeuProArgLeuGlnProLeuCysValLysCysLeuAspGlyLysGluValIleHisLeuGluAlaGlyGlyTyrHisSerLeuAlaLeuThrAlaLysSerGlnValTyrSerTrpGlySerAsnThrPheGlyGlnLeuGlyHisSerAspPheProThrThrValProArgLeuAlaLysIleSerSerGluAsnGlyValTrpSerIleAlaAlaGlyArgAspTyrSerLeuPheLeuValAspThrGluAspPheGlnProGlyLeuTyrTyrSerGlyArgGlnAspProThrGluGlyAspAsnLeuProGluAsnHisSerGlySerLysThrProValLeuLeuSerCysSerLysLeuGlyTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluTyrCysThrSerIleThrAsnPheLeuValMetGlyGlyPheGlnLeuLeuAlaLysProAlaIleAspPheLeuAsnLysAsnGlnGluLeuLeuGlnAspLeuSerGluValAsnAspGluAsnThrGlnLeuMetGluIleLeuAsnThrLeuPhePheLeuProIleArgArgLeuHisAsnTyrAlaLysValLeuLeuLysLeuAlaThrCysPheGluValAlaSerProGluTyrGlnLysLeuGlnAspSerSerSerCysTyrGluCysLeuAlaLeuHisLeuGlyArgLysArgLysGluAlaGluTyrThrLeuGlyPheTrpLysThrPheProGlyLysMetThrAspSerLeuArgLysProGluArgArgLeuLeuCysGluSerSerAsnArgAlaLeuSerLeuGlnHisAlaGlyArgPheSerValAsnTrpPheIleLeuPheAsnAspAlaLeuValHisAlaGlnGluTrpLeuLysAspAsnTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779856" }, { "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680287.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000506547.1:p.Arg201Ter", "hgvsWellDefined": "ENSP00000506547.1:p.Arg201_Asp812delinsValValLeuGlnValAlaCysGlyAlaPheHisSerLeuAlaLeuValGlnCysLeuProSerGlnAspLeuLysProValProGluArgCysAsnGlnCysSerGlnLeuLeuIleThrMetThrAspLysGluAspHisValIleIleSerAspSerHisCysCysProLeuGlyValThrLeuThrGluSerGlnAlaGluAsnHisAlaSerThrAlaLeuSerProSerThrGluThrLeuAspArgGlnGluGluValPheGluAsnThrLeuValAlaAsnAspGlnSerValAlaThrGluLeuAsnAlaValSerAlaGlnIleThrSerSerAspAlaMetSerSerGlnGlnAsnValMetGlyThrThrGluIleSerSerAlaArgAsnIleProSerTyrProAspThrGlnAlaValAsnGluTyrLeuArgLysLeuSerAspHisSerValArgGluAspSerGluHisGlyGluLysProValProSerGlnProLeuLeuGluGluAlaIleProAsnLeuHisSerProProThrThrSerThrSerAlaLeuAsnSerLeuValValSerCysAlaSerAlaValGlyValArgValAlaAlaThrTyrGluAlaGlyAlaLeuSerLeuLysLysValMetAsnPheTyrSerThrThrProCysGluThrGlyAlaGlnAlaGlySerSerAlaIleGlyProGluGlyLeuLysAspSerArgGluGluGlnValLysGlnGluSerMetGlnGlyLysLysSerSerSerLeuValAspIleArgGluGluGluThrGluGlyGlySerArgArgLeuSerLeuProGlyLeuLeuSerGlnValSerProArgLeuLeuArgLysAlaAlaArgValLysThrArgThrValValLeuThrProThrTyrSerGlyGluAlaAspAlaLeuLeuProSerLeuArgThrGluValTrpThrTrpGlyLysGlyLysGluGlyGlnLeuGlyHisGlyAspValLeuProArgLeuGlnProLeuCysValLysCysLeuAspGlyLysGluValIleHisLeuGluAlaGlyGlyTyrHisSerLeuAlaLeuThrAlaLysSerGlnValTyrSerTrpGlySerAsnThrPheGlyGlnLeuGlyHisSerAspPheProThrThrValProArgLeuAlaLysIleSerSerGluAsnGlyValTrpSerIleAlaAlaGlyArgAspTyrSerLeuPheLeuValAspThrGluAspPheGlnProGlyLeuTyrTyrSerGlyArgGlnAspProThrGluGlyAspAsnLeuProGluAsnHisSerGlySerLysThrProValLeuLeuSerCysSerLysLeuGlyTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrGluGlnValSerSerProValSerCysSerIleSerAlaGlyLeuPheCysGlnGlyGluGlnLeuLeuAsnGlnLysArgLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779906" }, { "coordinates": [ { "allele": "T", "end": 859, "referenceAllele": "C", "start": 858 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680497.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000505954.1:p.Arg201Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS780113" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680508.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000505749.1:p.Arg201Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS780124" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680569.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000505522.1:p.Arg201Ter", "hgvsWellDefined": "ENSP00000505522.1:p.Arg201_Gly792delinsValValLeuGlnValAlaCysGlyAlaPheHisSerLeuAlaLeuValGlnCysLeuProSerGlnAspLeuLysProValProGluArgCysAsnGlnCysSerGlnLeuLeuIleThrMetThrAspLysGluAspHisValIleIleSerAspSerHisCysCysProLeuGlyValThrLeuThrGluSerGlnAlaGluAsnHisAlaSerThrAlaLeuSerProSerThrGluThrLeuAspArgGlnGluGluValPheGluAsnThrLeuValAlaAsnAspGlnSerValAlaThrGluLeuAsnAlaValSerAlaGlnIleThrSerSerAspAlaMetSerSerGlnGlnAsnValMetGlyThrThrGluIleSerSerAlaArgAsnIleProSerTyrProAspThrGlnAlaValAsnGluTyrLeuArgLysLeuSerAspHisSerValArgGluAspSerGluHisGlyGluLysProValProSerGlnProLeuLeuGluGluAlaIleProAsnLeuHisSerProProThrThrSerThrSerAlaLeuAsnSerLeuValValSerCysAlaSerAlaValGlyValArgValAlaAlaThrTyrGluAlaGlyAlaLeuSerLeuLysLysValMetAsnPheTyrSerThrThrProCysGluThrGlyAlaGlnAlaGlySerSerAlaIleGlyProGluGlyLeuLysAspSerArgGluGluGlnValLysGlnGluSerMetGlnGlyLysLysSerSerSerLeuValAspIleArgGluGluGluThrGluGlyGlySerArgArgLeuSerLeuProGlyLeuLeuSerGlnValSerProArgLeuLeuArgLysAlaAlaArgValLysThrArgThrValValLeuThrProThrTyrSerGlyGluAlaAspAlaLeuLeuProSerLeuArgThrGluValTrpThrTrpGlyLysGlyLysGluGlyGlnLeuGlyHisGlyAspValLeuProArgLeuGlnProLeuCysValLysCysLeuAspGlyLysGluValIleHisLeuGluAlaGlyGlyTyrHisSerLeuAlaLeuThrAlaLysSerGlnValTyrSerTrpGlySerAsnThrPheGlyGlnLeuGlyHisSerAspPheProThrThrValProArgLeuAlaLysIleSerSerGluAsnGlyValTrpSerIleAlaAlaGlyArgAspTyrSerLeuPheLeuValAspThrGluAspPheGlnProGlyLeuTyrTyrSerGlyArgGlnAspProThrGluGlyAspAsnLeuProGluAsnHisSerGlySerLysThrProValLeuLeuSerCysSerLysLeuGlyTyrIleSerArgValThrAlaGlyLysAspSerTyrLeuAlaLeuValAspLysAsnIleMetGlyTyrIleAlaSerLeuHisGluLeuAlaThrThrGluArgArgPheTyrSerLysLeuSerAspIleLysSerGlnIleLeuArgProLeuLeuSerLeuGluAsnLeuGlyThrThrThrThrValGlnLeuLeuGlnGluValAlaSerArgPheSerLysLeuCysTyrLeuIleGlyGlnHisGlyAlaSerLeuSerSerPheLeuHisGlyValLysGluAlaArgSerLeuValIleLeuLysHisSerSerLeuPheLeuAspSerTyrThrAspArgValSerProCysCysProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780184" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680630.1:n.943C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780245" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680644.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000505738.1:p.Arg201Ter", "hgvsWellDefined": "ENSP00000505738.1:p.Arg201_Ser395delinsValValLeuGlnValAlaCysGlyAlaPheHisSerLeuAlaLeuValGlnCysLeuProSerGlnAspLeuLysProValProGluArgCysAsnGlnCysSerGlnLeuLeuIleThrMetThrAspLysGluAspHisValIleIleSerAspSerHisCysCysProLeuGlyValThrLeuThrGluSerGlnAlaGluAsnHisAlaSerThrAlaLeuSerProSerThrGluThrLeuAspArgGlnGluGluValPheGluAsnThrLeuValAlaAsnAspGlnSerValAlaThrGluLeuAsnAlaValSerAlaGlnIleThrSerSerAspAlaMetSerSerGlnGlnAsnValMetGlyThrThrGluIleSerSerAlaArgAsnIleProSerTyrProAspThrGlnAlaValAsnGluTyrLeuArgLysLeuSerAspHisSerValArgGluAspSerGluHisGlyGluLysProValProSerGlnProLeuLeuGluGluAlaIleProAsnLeuHisSerProProThrThrSerThrSerPheProProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780259" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680726.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000505505.1:p.Arg201Ter" }, 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