{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349380494", "communityStandardTitle": [ "NM_006164.5(NFE2L2):c.235G>T (p.Glu79Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1631472", "active": true, "id": "COSM1631472" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2137409[alleleid]", "alleleId": 2137409, "preferredName": "NM_006164.5(NFE2L2):c.235G>T (p.Glu79Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2087348", "RCV": [ "RCV003009514" ], "variationId": 2087348 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.178098810C>A?assembly=hg19", "id": "chr2:g.178098810C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.177234082C>A?assembly=hg38", "id": "chr2:g.177234082C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519922", "rs": 1057519922 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 177234082, "referenceAllele": "C", "start": 177234081 } ], "hgvs": [ "NC_000002.12:g.177234082C>A", "CM000664.2:g.177234082C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 178098810, "referenceAllele": "C", "start": 178098809 } ], "hgvs": [ "NC_000002.11:g.178098810C>A", "CM000664.1:g.178098810C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 177807056, "referenceAllele": "C", "start": 177807055 } ], "hgvs": [ "NC_000002.10:g.177807056C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 929, "referenceAllele": "G", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000397063.9:c.187G>T" ], "proteinEffect": { "hgvs": "ENSP00000380253.4:p.Glu63Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS904625" }, { "coordinates": [ { "allele": "T", "end": 462, "referenceAllele": "G", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000421929.6:c.187G>T" ], "proteinEffect": { "hgvs": "ENSP00000412191.2:p.Glu63Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS904775" }, { "coordinates": [ { "allele": "T", "end": 325, "referenceAllele": "G", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000423513.6:n.325G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS904788" }, { "coordinates": [ { "allele": "T", "end": 321, "referenceAllele": "G", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000448782.6:c.187G>T" ], "proteinEffect": { "hgvs": "ENSP00000400073.2:p.Glu63Ter", "hgvsWellDefined": "ENSP00000400073.2:p.Glu63_Asn589delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904974" }, { "coordinates": [ { "allele": "T", "end": 301, "referenceAllele": "G", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000458603.2:c.187G>T" ], "proteinEffect": { "hgvs": "ENSP00000416308.2:p.Glu63Ter", "hgvsWellDefined": "ENSP00000416308.2:p.Glu63_Ser197delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnTrpArgGlnGlyPheThrMetLeuThrArgValValTrpAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905065" }, { "coordinates": [ { "allele": "T", "end": 390, "referenceAllele": "G", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000462023.2:n.390G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905088" }, { "coordinates": [ { "allele": "T", "end": 325, "referenceAllele": "G", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000477534.2:n.325G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905249" }, { "coordinates": [ { "allele": "T", "end": 476, "referenceAllele": "G", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000586532.6:c.232G>T" ], "proteinEffect": { "hgvs": "ENSP00000464920.2:p.Glu78Ter", "hgvsWellDefined": "ENSP00000464920.2:p.Glu78_Asn604delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906062" }, { "coordinates": [ { "allele": "T", "end": 562, "referenceAllele": "G", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000588123.2:c.187G>T" ], "proteinEffect": { "hgvs": "ENSP00000468089.2:p.Glu63Ter", "hgvsWellDefined": "ENSP00000468089.2:p.Glu63_Gln182del" }, "referenceSequence": "http://reg.genome.network/refseq/RS906078" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "G", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699220.1:c.235G>T" ], "proteinEffect": { "hgvs": "ENSP00000514214.1:p.Glu79Ter", "hgvsWellDefined": "ENSP00000514214.1:p.Glu79_Trp235delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnAlaLeuThrMetLeuProArgLeuValSerAsnSerTrpThrTrpAspProSerAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisCysAlaTrpProTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910160" }, { "coordinates": [ { "allele": "T", "end": 244, "endIntronDirection": "+", "endIntronOffset": 142, "referenceAllele": "G", "start": 244, "startIntronDirection": "+", "startIntronOffset": 141 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699223.1:c.93+142G>T" ], "proteinEffect": { "hgvs": "ENSP00000514217.1:n.93+142G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910163" }, { "coordinates": [ { "allele": "T", "end": 372, "referenceAllele": "G", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699224.1:c.235G>T" ], "proteinEffect": { "hgvs": "ENSP00000514218.1:p.Glu79Ter", "hgvsWellDefined": "ENSP00000514218.1:p.Glu79_Ser207delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnTyrLysLeuProSerHisAlaValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910164" }, { "coordinates": [ { "allele": "T", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699264.1:c.235G>T" ], "proteinEffect": { "hgvs": "ENSP00000514245.1:p.Glu79Ter", "hgvsWellDefined": "ENSP00000514245.1:p.Glu79_Asn598delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910204" }, { "coordinates": [ { "allele": "T", "end": 709, "referenceAllele": "G", "start": 708 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699265.1:c.232G>T" ], "proteinEffect": { "hgvs": "ENSP00000514246.1:p.Glu78Ter", "hgvsWellDefined": "ENSP00000514246.1:p.Glu78_Asn604delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" 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"referenceAllele": "G", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699309.1:c.232G>T" ], "proteinEffect": { "hgvs": "ENSP00000514288.1:p.Glu78Ter", "hgvsWellDefined": "ENSP00000514288.1:p.Glu78_Glu133del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910247" }, { "coordinates": [ { "allele": "T", "end": 190, "referenceAllele": "G", "start": 189 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699327.1:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000514302.1:p.Glu64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS910268" }, { "coordinates": [ { "allele": "T", "end": 977, "referenceAllele": "G", "start": 976 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699331.1:c.232G>T" ], "proteinEffect": { "hgvs": "ENSP00000514305.1:p.Glu78Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS910269" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "G", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699332.1:n.307G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910270" }, { "coordinates": [ { "allele": "T", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699342.1:c.235G>T" ], "proteinEffect": { "hgvs": "ENSP00000514317.1:p.Glu79Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS910280" }, { "coordinates": [ { "allele": "T", "end": 834, "referenceAllele": "G", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699344.1:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000514319.1:p.Glu66Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS910281" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "G", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699345.1:c.232G>T" ], "proteinEffect": { "hgvs": "ENSP00000514320.1:p.Glu78Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS910282" }, { "coordinates": [ { "allele": "T", "end": 1003, "referenceAllele": "G", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699346.1:c.373G>T" ], "proteinEffect": { "hgvs": "ENSP00000514321.1:p.Glu125Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS910283" }, { "coordinates": [ { "allele": "T", "end": 331, "referenceAllele": "G", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699347.1:c.187G>T" ], "proteinEffect": { "hgvs": "ENSP00000514322.1:p.Glu63Ter", "hgvsWellDefined": "ENSP00000514322.1:p.Glu63_Leu199delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnValThrLysIleGluCysAsnThrGlyAspPhePheTyrIleGlnCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910284" }, { "coordinates": [ { "allele": "T", "end": 605, "referenceAllele": "G", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699348.1:c.232G>T" ], "proteinEffect": { "hgvs": "ENSP00000514323.1:p.Glu78Ter", "hgvsWellDefined": "ENSP00000514323.1:p.Glu78_Asn604delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910285" }, { "coordinates": [ { "allele": "T", "end": 375, "referenceAllele": "G", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699349.1:n.375G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910286" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "G", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699350.1:c.232G>T" ], "proteinEffect": { "hgvs": "ENSP00000514324.1:p.Glu78Ter", "hgvsWellDefined": "ENSP00000514324.1:p.Glu78_Asn604delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910287" }, { "coordinates": [ { "allele": "T", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699351.1:c.187G>T" ], "proteinEffect": { "hgvs": "ENSP00000514325.1:p.Glu63Ter", "hgvsWellDefined": "ENSP00000514325.1:p.Glu63_Asn589delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910288" }, { "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "G", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699352.1:c.232G>T" ], "proteinEffect": { "hgvs": "ENSP00000514326.1:p.Glu78Ter", "hgvsWellDefined": "ENSP00000514326.1:p.Glu78_Gln197del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910289" }, { "coordinates": [ { "allele": "T", "end": 699, "referenceAllele": "G", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699353.1:c.373G>T" ], "proteinEffect": { "hgvs": "ENSP00000514327.1:p.Glu125Ter", "hgvsWellDefined": "ENSP00000514327.1:p.Glu125_Glu180del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910290" }, { "coordinates": [ { "allele": "T", "end": 909, "referenceAllele": "G", "start": 908 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699404.1:c.232G>T" ], "proteinEffect": { "hgvs": "ENSP00000514365.1:p.Glu78Ter", "hgvsWellDefined": "ENSP00000514365.1:p.Glu78_Cys277delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluAlaLeuThrMetLeuProArgLeuValSerAsnSerTrpThrTrpAspProSerAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisCysAlaTrpProTrpSerLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910341" }, { "coordinates": [ { "allele": "T", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699405.1:c.235G>T" ], "proteinEffect": { "hgvs": "ENSP00000514366.1:p.Glu79Ter", "hgvsWellDefined": "ENSP00000514366.1:p.Glu79_Trp275delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluAlaLeuThrMetLeuProArgLeuValSerAsnSerTrpThrTrpAspProSerAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisCysAlaTrpProTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910342" }, { "coordinates": [ { "allele": "T", "end": 972, "referenceAllele": "G", 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"ENSP00000514386.1:p.Glu63_Asn589delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910369" }, { "coordinates": [ { "allele": "T", "end": 926, "referenceAllele": "G", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000699435.1:c.232G>T" ], "proteinEffect": { "hgvs": "ENSP00000514387.1:p.Glu78Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS910370" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000397062.8:c.235G>T" ], "proteinEffect": { "hgvs": "ENSP00000380252.3:p.Glu79Ter", "hgvsWellDefined": "ENSP00000380252.3:p.Glu79_Asn605delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753595", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397062.8:c.235G>T" }, "RefSeq": { "hgvs": "NM_006164.5:c.235G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380252.3:p.Glu79Ter" }, "RefSeq": { "hgvs": "NP_006155.2:p.Glu79Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 790, "referenceAllele": "G", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000397062.7:c.235G>T" ], "proteinEffect": { "hgvs": "ENSP00000380252.3:p.Glu79Ter", "hgvsWellDefined": "ENSP00000380252.3:p.Glu79_Asn605delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277584" }, { "coordinates": [ { "allele": "T", "end": 588, "referenceAllele": "G", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000397063.8:c.187G>T" ], "proteinEffect": { "hgvs": "ENSP00000380253.4:p.Glu63Ter", "hgvsWellDefined": "ENSP00000380253.4:p.Glu63_Asn589delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277585" }, { "coordinates": [ { "allele": "T", "end": 462, "referenceAllele": "G", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000421929.5:c.187G>T" ], "proteinEffect": { "hgvs": "ENSP00000412191.1:p.Glu63Ter", "hgvsWellDefined": "ENSP00000412191.1:p.Glu63Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS287035" }, { "coordinates": [ { "allele": "T", "end": 242, "referenceAllele": "G", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000423513.5:c.187G>T" ], "proteinEffect": { "hgvs": "ENSP00000410015.1:p.Glu63Ter", "hgvsWellDefined": "ENSP00000410015.1:p.Glu63_Met141delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValArgTyrLysIleThrTrpLeuIleGluLysLeuHisHisAsnTyrLysIleThrIleTyrSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287796" }, { "coordinates": [ { "allele": "T", "end": 310, "endIntronDirection": "+", "endIntronOffset": 172, "referenceAllele": "G", "start": 310, "startIntronDirection": "+", "startIntronOffset": 171 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000430047.1:c.63+172G>T" ], "proteinEffect": { "hgvs": "ENSP00000391291.1:n.63+172G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS290956" }, { "coordinates": [ { "allele": "T", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000446151.6:c.187G>T" ], "proteinEffect": { "hgvs": "ENSP00000411575.2:p.Glu63Ter", "hgvsWellDefined": "ENSP00000411575.2:p.Glu63_Asn582delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS298608" }, { "coordinates": [ { "allele": "T", "end": 321, "referenceAllele": "G", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000448782.5:c.187G>T" ], "proteinEffect": { "hgvs": "ENSP00000400073.1:p.Glu63Ter", "hgvsWellDefined": "ENSP00000400073.1:p.Glu63Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS299880" }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "G", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000449627.1:c.187G>T" ], "proteinEffect": { "hgvs": "ENSP00000391590.1:p.Glu63Ter", "hgvsWellDefined": "ENSP00000391590.1:p.Glu63Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS300310" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000462023.1:n.318G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS306384" }, { "coordinates": [ { "allele": "T", "end": 689, "referenceAllele": "G", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000464747.5:c.187G>T" ], "proteinEffect": { "hgvs": "ENSP00000467401.1:p.Glu63Ter", "hgvsWellDefined": "ENSP00000467401.1:p.Glu63_Asn589delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS308500" }, { "coordinates": [ { "allele": "T", "end": 325, "referenceAllele": "G", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000477534.1:n.325G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS318321" }, { "coordinates": [ { "allele": "T", "end": 379, "referenceAllele": "G", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000586532.5:c.232G>T" ], "proteinEffect": { "hgvs": "ENSP00000464920.1:p.Glu78Ter", "hgvsWellDefined": "ENSP00000464920.1:p.Glu78_Leu265del" }, "referenceSequence": "http://reg.genome.network/refseq/RS389453" }, { "coordinates": [ { "allele": "T", "end": 562, "referenceAllele": "G", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "ENST00000588123.1:c.187G>T" ], "proteinEffect": { "hgvs": "ENSP00000468089.1:p.Glu63Ter", "hgvsWellDefined": "ENSP00000468089.1:p.Glu63Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS390565" }, { "@id": "http://reg.genome.network/allele/PA2825891485", "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "G", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "NM_001145412.2:c.187G>T" ], "proteinEffect": { "hgvs": "NP_001138884.1:p.Glu63Ter", "hgvsWellDefined": "NP_001138884.1:p.Glu63_Asn589delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013638" }, { "@id": "http://reg.genome.network/allele/PA2825891485", "coordinates": [ { "allele": "T", "end": 919, "referenceAllele": "G", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "NM_001145412.3:c.187G>T" ], "proteinEffect": { "hgvs": "NP_001138884.1:p.Glu63Ter", "hgvsWellDefined": "NP_001138884.1:p.Glu63_Asn589delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013639" }, { "@id": "http://reg.genome.network/allele/PA2825891722", "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "G", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "NM_001145413.2:c.187G>T" ], "proteinEffect": { "hgvs": "NP_001138885.1:p.Glu63Ter", "hgvsWellDefined": "NP_001138885.1:p.Glu63_Asn582delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013640" }, { "@id": "http://reg.genome.network/allele/PA2825891722", "coordinates": [ { "allele": "T", "end": 919, "referenceAllele": "G", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "NM_001145413.3:c.187G>T" ], "proteinEffect": { "hgvs": "NP_001138885.1:p.Glu63Ter", "hgvsWellDefined": "NP_001138885.1:p.Glu63_Asn582delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013641" }, { "@id": "http://reg.genome.network/allele/PA2826945768", "coordinates": [ { "allele": "T", "end": 793, "referenceAllele": "G", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "NM_001313900.1:c.187G>T" ], "proteinEffect": { "hgvs": "NP_001300829.1:p.Glu63Ter", "hgvsWellDefined": "NP_001300829.1:p.Glu63_Asn589delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026477" }, { "@id": "http://reg.genome.network/allele/PA2826946001", "coordinates": [ { "allele": "T", "end": 885, "referenceAllele": "G", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "NM_001313901.1:c.187G>T" ], "proteinEffect": { "hgvs": "NP_001300830.1:p.Glu63Ter", "hgvsWellDefined": "NP_001300830.1:p.Glu63_Asn589delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026478" }, { "@id": "http://reg.genome.network/allele/PA2826946243", "coordinates": [ { "allele": "T", "end": 790, "referenceAllele": "G", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "NM_001313902.1:c.235G>T" ], "proteinEffect": { "hgvs": "NP_001300831.1:p.Glu79Ter", "hgvsWellDefined": "NP_001300831.1:p.Glu79_Asn575delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026479" }, { "coordinates": [ { "allele": "T", "end": 648, "endIntronDirection": "+", "endIntronOffset": 142, "referenceAllele": "G", "start": 648, "startIntronDirection": "+", "startIntronOffset": 141 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "NM_001313903.1:c.93+142G>T" ], "proteinEffect": { "hgvs": "NP_001300832.1:n.93+142G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS026480" }, { "@id": "http://reg.genome.network/allele/PA645489924", "coordinates": [ { "allele": "T", "end": 919, "referenceAllele": "G", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "NM_001313904.1:c.6G>T" ], "proteinEffect": { "hgvs": "NP_001300833.1:p.Lys2Asn", "hgvsWellDefined": "NP_001300833.1:p.Lys2Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS026481" }, { "@id": "http://reg.genome.network/allele/PA2829634523", "coordinates": [ { "allele": "T", "end": 790, "referenceAllele": "G", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "NM_006164.4:c.235G>T" ], "proteinEffect": { "hgvs": "NP_006155.2:p.Glu79Ter", "hgvsWellDefined": "NP_006155.2:p.Glu79_Asn605delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031193" }, { "@id": "http://reg.genome.network/allele/PA2829634523", "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "NM_006164.5:c.235G>T" ], "proteinEffect": { "hgvs": "NP_006155.2:p.Glu79Ter", "hgvsWellDefined": "NP_006155.2:p.Glu79_Asn605delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValAlaHisIleProLysSerAspAlaLeuTyrPheAspAspCysMetGlnLeuLeuAlaGlnThrPheProPheValAspAspAsnGluValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS667322", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397062.8:c.235G>T" }, "RefSeq": { "hgvs": "NM_006164.5:c.235G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380252.3:p.Glu79Ter" }, "RefSeq": { "hgvs": "NP_006155.2:p.Glu79Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826946243", "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "NM_001313902.2:c.235G>T" ], "proteinEffect": { "hgvs": "NP_001300831.1:p.Glu79Ter", "hgvsWellDefined": "NP_001300831.1:p.Glu79_Asn575delinsThrGlyGluPheLeuProIleGlnProAlaGlnHisIleGlnSerGluThrSerGlySerAlaAsnTyrSerGlnValSerSerAlaThrPheGlnSerLeuValProAspIleProGlyHisIleGluSerProValPheIleAlaThrAsnGlnAlaGlnSerProGluThrSerValAlaGlnValAlaProValAspLeuAspGlyMetGlnGlnAspIleGluGlnValTrpGluGluLeuLeuSerIleProGluLeuGlnCysLeuAsnIleGluAsnAspLysLeuValGluThrThrMetValProSerProGluAlaLysLeuThrGluValAspAsnTyrHisPheTyrSerSerIleProSerMetGluLysGluValGlyAsnCysSerProHisPheLeuAsnAlaPheGluAspSerPheSerSerIleLeuSerThrGluAspProAsnGlnLeuThrValAsnSerLeuAsnSerAspAlaThrValAsnThrAspPheGlyAspGluPheTyrSerAlaPheIleAlaGluProSerIleSerAsnSerMetProSerProAlaThrLeuSerHisSerLeuSerGluLeuLeuAsnGlyProIleAspValSerAspLeuSerLeuCysLysAlaPheAsnGlnAsnHisProGluSerThrAlaGluPheAsnAspSerAspSerGlyIleSerLeuAsnThrSerProSerValAlaSerProGluHisSerValGluSerSerSerTyrGlyAspThrLeuLeuGlyLeuSerAspSerGluValGluGluLeuAspSerAlaProGlySerValLysGlnAsnGlyProLysThrProValHisSerSerGlyAspMetValGlnProLeuSerProSerGlnGlyGlnSerThrHisValHisAspAlaGlnCysGluAsnThrProGluLysGluLeuProValSerProGlyHisArgLysThrProPheThrLysAspLysHisSerSerArgLeuGluAlaHisLeuThrArgAspGluLeuArgAlaLysAlaLeuHisIleProPheProValGluLysIleIleAsnLeuProValValAspPheAsnGluMetMetSerLysGluGlnPheAsnGluAlaGlnLeuAlaLeuIleArgAspIleArgArgArgGlyLysAsnLysValAlaAlaGlnAsnCysArgLysArgLysLeuGluAsnIleValGluLeuGluGlnAspLeuAspHisLeuLysAspGluLysGluLysLeuLeuLysGluLysGlyGluAsnAspLysSerLeuHisLeuLeuLysLysGlnLeuSerThrLeuTyrLeuGluValPheSerMetLeuArgAspGluAspGlyLysProTyrSerProSerGluTyrSerLeuGlnGlnThrArgAspGlyAsnValPheLeuValProLysSerLysLysProAspValLysLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781845" }, { "coordinates": [ { "allele": "T", "end": 244, "endIntronDirection": "+", "endIntronOffset": 142, "referenceAllele": "G", "start": 244, "startIntronDirection": "+", "startIntronOffset": 141 } ], "gene": "http://reg.genome.network/gene/GN007782", "geneNCBI_id": 4780, "geneSymbol": "NFE2L2", "hgvs": [ "NM_001313903.2:c.93+142G>T" ], "proteinEffect": { "hgvs": "NP_001300832.1:n.93+142G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781846" } ], "type": "nucleotide" }