{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA119752", "communityStandardTitle": [ "NM_000901.5(NR3C2):c.2024C>G (p.Ser675Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23609[alleleid]", "alleleId": 23609, "preferredName": "NM_000901.5(NR3C2):c.2024C>G (p.Ser675Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8570", "RCV": [ "RCV000009101" ], "variationId": 8570 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.149076043G>C?assembly=hg19", "id": "chr4:g.149076043G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.148154892G>C?assembly=hg38", "id": "chr4:g.148154892G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121912572", "rs": 121912572 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "C", "end": 148154892, "referenceAllele": "G", "start": 148154891 } ], "hgvs": [ "NC_000004.12:g.148154892G>C", "CM000666.2:g.148154892G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "C", "end": 149076043, "referenceAllele": "G", "start": 149076042 } ], "hgvs": [ "NC_000004.11:g.149076043G>C", "CM000666.1:g.149076043G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "C", "end": 149295493, "referenceAllele": "G", "start": 149295492 } ], "hgvs": [ "NC_000004.10:g.149295493G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "G", "end": 292630, "referenceAllele": "C", "start": 292629 } ], "hgvs": [ "NG_013350.1:g.292630C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002802" } ], "transcriptAlleles": [ { "coordinates": [ { 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"http://reg.genome.network/refseq/RS262039" }, { "coordinates": [ { "allele": "G", "end": 2387, "referenceAllele": "C", "start": 2386 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000358102.7:c.2024C>G" ], "proteinEffect": { "hgvs": "ENSP00000350815.3:p.Ser675Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS264335" }, { "coordinates": [ { "allele": "G", "end": 221, "referenceAllele": "C", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000503313.1:n.221C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS335657" }, { "coordinates": [ { "allele": "G", "end": 2036, "referenceAllele": "C", "start": 2035 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000511528.1:c.2036C>G" ], "proteinEffect": { "hgvs": "ENSP00000421481.1:p.Ser679Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS341776" }, { "coordinates": [ { "allele": "G", "end": 2081, "endIntronDirection": "-", "endIntronOffset": 2278, "referenceAllele": "C", "start": 2081, "startIntronDirection": "-", "startIntronOffset": 2279 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000512865.5:c.2015-2279C>G" ], "proteinEffect": { "hgvs": "ENSP00000423510.1:n.2015-2279C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS342759" }, { "coordinates": [ { "allele": "G", "end": 2399, "referenceAllele": "C", "start": 2398 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "ENST00000625323.2:c.2036C>G" ], "proteinEffect": { "hgvs": "ENSP00000486719.1:p.Ser679Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS406569" }, { "@id": "http://reg.genome.network/allele/PA119753", "coordinates": [ { "allele": "G", "end": 2387, "referenceAllele": "C", "start": 2386 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_000901.4:c.2024C>G" ], "proteinEffect": { "hgvs": "NP_000892.2:p.Ser675Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS006927" }, { "coordinates": [ { "allele": "G", "end": 2377, "endIntronDirection": "-", "endIntronOffset": 2278, "referenceAllele": "C", "start": 2377, "startIntronDirection": "-", "startIntronOffset": 2279 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_001166104.1:c.2015-2279C>G" ], "proteinEffect": { "hgvs": "NP_001159576.1:n.2015-2279C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS014790" }, { "coordinates": [ { "allele": "G", "end": 2399, "referenceAllele": "C", "start": 2398 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "XM_011531975.1:c.2036C>G" ], "proteinEffect": { "hgvs": "XP_011530277.1:p.Ser679Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS099004" }, { "coordinates": [ { "allele": "G", "end": 2211, "referenceAllele": "C", "start": 2210 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "XM_011531976.1:c.2036C>G" ], "proteinEffect": { "hgvs": "XP_011530278.1:p.Ser679Ter", "hgvsWellDefined": "XP_011530278.1:p.Ser679_Lys988delinsLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099005" }, { "coordinates": [ { "allele": "G", "end": 2117, "referenceAllele": "C", "start": 2116 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "XM_011531977.1:c.2036C>G" ], "proteinEffect": { "hgvs": "XP_011530279.1:p.Ser679Ter", "hgvsWellDefined": "XP_011530279.1:p.Ser679_Lys988delinsLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099006" }, { "coordinates": [ { "allele": "G", "end": 2399, "referenceAllele": "C", "start": 2398 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "XM_011531978.1:c.2036C>G" ], "proteinEffect": { "hgvs": "XP_011530280.1:p.Ser679Ter", "hgvsWellDefined": "XP_011530280.1:p.Ser679_Gly849delinsLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluLeuLeuAlaArgValArgGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099007" }, { "coordinates": [ { "allele": "G", "end": 2189, "endIntronDirection": "-", "endIntronOffset": 2278, "referenceAllele": "C", "start": 2189, "startIntronDirection": "-", "startIntronOffset": 2279 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_001354819.1:c.2015-2279C>G" ], "proteinEffect": { "hgvs": "NP_001341748.1:n.2015-2279C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS522703" }, { "coordinates": [ { "allele": "G", "end": 2377, "endIntronDirection": "-", "endIntronOffset": 34603, "referenceAllele": "C", "start": 2377, "startIntronDirection": "-", "startIntronOffset": 34604 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NR_148974.1:n.2378-34604C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531419" }, { "coordinates": [ { "allele": "G", "end": 2399, "referenceAllele": "C", "start": 2398 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "XM_011531978.2:c.2036C>G" ], "proteinEffect": { "hgvs": "XP_011530280.1:p.Ser679Ter", "hgvsWellDefined": "XP_011530280.1:p.Ser679_Gly849delinsLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluLeuLeuAlaArgValArgGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550644" }, { "@id": "http://reg.genome.network/allele/PA119753", "coordinates": [ { "allele": "G", "end": 2281, "referenceAllele": "C", "start": 2280 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_000901.5:c.2024C>G" ], "proteinEffect": { "hgvs": "NP_000892.2:p.Ser675Ter", "hgvsWellDefined": "NP_000892.2:p.Ser675_Lys984delinsLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358102.8:c.2024C>G" }, "RefSeq": { "hgvs": "NM_000901.5:c.2024C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350815.3:p.Ser675Ter" }, "RefSeq": { "hgvs": "NP_000892.2:p.Ser675Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 2271, "endIntronDirection": "-", "endIntronOffset": 2278, "referenceAllele": "C", "start": 2271, "startIntronDirection": "-", "startIntronOffset": 2279 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_001166104.2:c.2015-2279C>G" ], "proteinEffect": { "hgvs": "NP_001159576.1:n.2015-2279C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS678459" }, { "coordinates": [ { "allele": "G", "end": 2271, "endIntronDirection": "-", "endIntronOffset": 34603, "referenceAllele": "C", "start": 2271, "startIntronDirection": "-", "startIntronOffset": 34604 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NR_148974.2:n.2272-34604C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704899" } ], "type": "nucleotide" }