{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA119736", "communityStandardTitle": [ "NM_000901.5(NR3C2):c.1935C>A (p.Cys645Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23601[alleleid]", "alleleId": 23601, "preferredName": "NM_000901.5(NR3C2):c.1935C>A (p.Cys645Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8562", "RCV": [ "RCV000009093" ], "variationId": 8562 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.149115976G>T?assembly=hg19", "id": "chr4:g.149115976G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.148194825G>T?assembly=hg38", "id": "chr4:g.148194825G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121912564", "rs": 121912564 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 148194825, "referenceAllele": "G", "start": 148194824 } ], "hgvs": [ "NC_000004.12:g.148194825G>T", "CM000666.2:g.148194825G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 149115976, "referenceAllele": "G", "start": 149115975 } ], "hgvs": [ "NC_000004.11:g.149115976G>T", "CM000666.1:g.149115976G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 149335426, "referenceAllele": "G", "start": 149335425 } ], "hgvs": [ "NC_000004.10:g.149335426G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 252697, "referenceAllele": "C", "start": 252696 } ], "hgvs": [ "NG_013350.1:g.252697C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002802" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2192, "referenceAllele": "C", "start": 2191 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000358102.8:c.1935C>A" ], "proteinEffect": { "hgvs": "ENSP00000350815.3:p.Cys645Ter", "hgvsWellDefined": "ENSP00000350815.3:p.Cys645_Lys984delinsIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749025", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358102.8:c.1935C>A" }, "RefSeq": { "hgvs": "NM_000901.5:c.1935C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350815.3:p.Cys645Ter" }, "RefSeq": { "hgvs": "NP_000892.2:p.Cys645Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2149, "referenceAllele": "C", "start": 2148 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000342437.8:c.1935C>A" ], "proteinEffect": { "hgvs": "ENSP00000343907.4:p.Cys645Ter", "hgvsWellDefined": "ENSP00000343907.4:p.Cys645_Ser706delinsIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyGluArgArgCysIleSerLeuProCysMetAsnTyrAlaArgGlyCysThrLysSerAlaPheSerSerPheAspCysSerSerProLeuLysAsnThrProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261554" }, { "coordinates": [ { "allele": "A", "end": 2110, "referenceAllele": "C", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000344721.8:c.1935C>A" ], "proteinEffect": { "hgvs": "ENSP00000341390.4:p.Cys645Ter", "hgvsWellDefined": "ENSP00000341390.4:p.Cys645_Lys984delinsIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262039" }, { "coordinates": [ { "allele": "A", "end": 2298, "referenceAllele": "C", "start": 2297 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000358102.7:c.1935C>A" ], "proteinEffect": { "hgvs": "ENSP00000350815.3:p.Cys645Ter", "hgvsWellDefined": "ENSP00000350815.3:p.Cys645_Lys984delinsIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264335" }, { "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "C", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000503313.1:n.132C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS335657" }, { "coordinates": [ { "allele": "A", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000504753.1:n.384C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS336722" }, { "coordinates": [ { "allele": "A", "end": 1947, "referenceAllele": "C", "start": 1946 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000511528.1:c.1947C>A" ], "proteinEffect": { "hgvs": "ENSP00000421481.1:p.Cys649Ter", "hgvsWellDefined": "ENSP00000421481.1:p.Cys649_Lys988delinsIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS341776" }, { "coordinates": [ { "allele": "A", "end": 2002, "referenceAllele": "C", "start": 2001 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000512865.5:c.1935C>A" ], "proteinEffect": { "hgvs": "ENSP00000423510.1:p.Cys645Ter", "hgvsWellDefined": "ENSP00000423510.1:p.Cys645_Lys867delinsIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS342759" }, { "coordinates": [ { "allele": "A", "end": 2310, "referenceAllele": "C", "start": 2309 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000625323.2:c.1947C>A" ], "proteinEffect": { "hgvs": "ENSP00000486719.1:p.Cys649Ter", "hgvsWellDefined": "ENSP00000486719.1:p.Cys649_Lys988delinsIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406569" }, { "@id": "http://reg.genome.network/allele/PA119737", "coordinates": [ { "allele": "A", "end": 2298, "referenceAllele": "C", "start": 2297 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_000901.4:c.1935C>A" ], "proteinEffect": { "hgvs": "NP_000892.2:p.Cys645Ter", "hgvsWellDefined": "NP_000892.2:p.Cys645_Lys984delinsIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006927" }, { "@id": "http://reg.genome.network/allele/PA2826018220", "coordinates": [ { "allele": "A", "end": 2298, "referenceAllele": "C", "start": 2297 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_001166104.1:c.1935C>A" ], "proteinEffect": { "hgvs": "NP_001159576.1:p.Cys645Ter", "hgvsWellDefined": "NP_001159576.1:p.Cys645_Lys867delinsIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014790" }, { "coordinates": [ { "allele": "A", "end": 2310, "referenceAllele": "C", "start": 2309 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "XM_011531975.1:c.1947C>A" ], "proteinEffect": { "hgvs": "XP_011530277.1:p.Cys649Ter", "hgvsWellDefined": "XP_011530277.1:p.Cys649_Lys988delinsIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099004" }, { "coordinates": [ { "allele": "A", "end": 2122, "referenceAllele": "C", "start": 2121 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "XM_011531976.1:c.1947C>A" ], "proteinEffect": { "hgvs": "XP_011530278.1:p.Cys649Ter", "hgvsWellDefined": "XP_011530278.1:p.Cys649_Lys988delinsIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099005" }, { "coordinates": [ { "allele": "A", "end": 2028, "referenceAllele": "C", "start": 2027 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "XM_011531977.1:c.1947C>A" ], "proteinEffect": { "hgvs": "XP_011530279.1:p.Cys649Ter", "hgvsWellDefined": "XP_011530279.1:p.Cys649_Lys988delinsIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099006" }, { "coordinates": [ { "allele": "A", "end": 2310, "referenceAllele": "C", "start": 2309 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "XM_011531978.1:c.1947C>A" ], "proteinEffect": { "hgvs": "XP_011530280.1:p.Cys649Ter", "hgvsWellDefined": "XP_011530280.1:p.Cys649_Gly849delinsIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluLeuLeuAlaArgValArgGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099007" }, { "@id": "http://reg.genome.network/allele/PA916039479", "coordinates": [ { "allele": "A", "end": 2110, "referenceAllele": "C", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_001354819.1:c.1935C>A" ], "proteinEffect": { "hgvs": "NP_001341748.1:p.Cys645Ter", "hgvsWellDefined": "NP_001341748.1:p.Cys645_Lys867delinsIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522703" }, { "coordinates": [ { "allele": "A", "end": 2298, "referenceAllele": "C", "start": 2297 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NR_148974.1:n.2298C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531419" }, { "coordinates": [ { "allele": "A", "end": 2310, "referenceAllele": "C", "start": 2309 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "XM_011531978.2:c.1947C>A" ], "proteinEffect": { "hgvs": "XP_011530280.1:p.Cys649Ter", "hgvsWellDefined": "XP_011530280.1:p.Cys649_Gly849delinsIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluLeuLeuAlaArgValArgGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550644" }, { "@id": "http://reg.genome.network/allele/PA119737", "coordinates": [ { "allele": "A", "end": 2192, "referenceAllele": "C", "start": 2191 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_000901.5:c.1935C>A" ], "proteinEffect": { "hgvs": "NP_000892.2:p.Cys645Ter", "hgvsWellDefined": "NP_000892.2:p.Cys645_Lys984delinsIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358102.8:c.1935C>A" }, "RefSeq": { "hgvs": "NM_000901.5:c.1935C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350815.3:p.Cys645Ter" }, "RefSeq": { "hgvs": "NP_000892.2:p.Cys645Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826018220", "coordinates": [ { "allele": "A", "end": 2192, "referenceAllele": "C", "start": 2191 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_001166104.2:c.1935C>A" ], "proteinEffect": { "hgvs": "NP_001159576.1:p.Cys645Ter", "hgvsWellDefined": "NP_001159576.1:p.Cys645_Lys867delinsIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678459" }, { "coordinates": [ { "allele": "A", "end": 2192, "referenceAllele": "C", "start": 2191 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NR_148974.2:n.2192C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704899" } ], "type": "nucleotide" }