{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA020034", "communityStandardTitle": [ "NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=208079", "active": true, "id": "COSM208079" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31132[alleleid]", "alleleId": 31132, "preferredName": "NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16093", "RCV": [ "RCV000017473", "RCV002496390" ], "variationId": 16093 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/3-170723136-G-A", "id": "3-170723136-G-A", "variant": "3:170723136 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.170723136G>A?assembly=hg19", "id": "chr3:g.170723136G>A" } ], "MyVariantInfo_hg38": [ { "@id": 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"http://reg.genome.network/refseq/RS662407", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000314251.8:c.901C>T" }, "RefSeq": { "hgvs": "NM_000340.2:c.901C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000323568.3:p.Arg301Ter" }, "RefSeq": { "hgvs": "NP_000331.1:p.Arg301Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826611492", "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN011006", "geneNCBI_id": 6514, "geneSymbol": "SLC2A2", "hgvs": [ "NM_001278658.2:c.544C>T" ], "proteinEffect": { "hgvs": "NP_001265587.1:p.Arg182Ter", "hgvsWellDefined": "NP_001265587.1:p.Arg182_Val405delinsGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681539" }, { "@id": "http://reg.genome.network/allele/PA2826611593", "coordinates": [ { "allele": "T", "end": 826, "referenceAllele": "C", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN011006", "geneNCBI_id": 6514, "geneSymbol": "SLC2A2", "hgvs": [ "NM_001278659.2:c.382C>T" ], "proteinEffect": { "hgvs": "NP_001265588.1:p.Arg128Ter", "hgvsWellDefined": "NP_001265588.1:p.Arg128_Val351delinsGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681540" } ], "type": "nucleotide" }