{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA260413", "communityStandardTitle": [ "NM_000206.3(IL2RG):c.455T>C (p.Val152Ala)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45049[alleleid]", "alleleId": 45049, "preferredName": "NM_000206.3(IL2RG):c.455T>C (p.Val152Ala)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36386", "RCV": [ "RCV000030055" ], "variationId": 36386 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.70330145A>G?assembly=hg19", "id": "chrX:g.70330145A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.71110295A>G?assembly=hg38", "id": "chrX:g.71110295A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/193922348", "rs": 193922348 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 71110295, "referenceAllele": "A", "start": 71110294 } ], "hgvs": [ "NC_000023.11:g.71110295A>G", "CM000685.2:g.71110295A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 70330145, "referenceAllele": "A", "start": 70330144 } ], "hgvs": [ "NC_000023.10:g.70330145A>G", "CM000685.1:g.70330145A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 70246870, "referenceAllele": "A", "start": 70246869 } ], "hgvs": [ "NC_000023.9:g.70246870A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "C", "end": 6259, "referenceAllele": "T", "start": 6258 } ], "hgvs": [ "NG_009088.1:g.6259T>C", "LRG_150:g.6259T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001421" }, { "coordinates": [ { "allele": "C", "end": 1494, "referenceAllele": "T", "start": 1493 } ], "hgvs": [ "NG_021141.1:g.1494T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS003443" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 506, "referenceAllele": "T", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN006010", "geneNCBI_id": 3561, "geneSymbol": "IL2RG", "hgvs": [ "ENST00000482750.6:c.455T>C" ], "proteinEffect": { "hgvs": "ENSP00000421262.2:p.Val152Ala", "hgvsWellDefined": "ENSP00000421262.2:p.Val152Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS905296" }, { "coordinates": [ { "allele": "C", "end": 506, "referenceAllele": "T", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN006010", "geneNCBI_id": 3561, "geneSymbol": "IL2RG", "hgvs": [ "ENST00000696903.1:n.506T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS908340" }, { "coordinates": [ { "allele": "C", "end": 493, "referenceAllele": "T", "start": 492 } ], "gene": "http://reg.genome.network/gene/GN006010", "geneNCBI_id": 3561, "geneSymbol": "IL2RG", "hgvs": [ "ENST00000374202.7:c.455T>C" ], "proteinEffect": { "hgvs": "ENSP00000363318.3:p.Val152Ala", "hgvsWellDefined": "ENSP00000363318.3:p.Val152Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS751388", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374202.7:c.455T>C" }, "RefSeq": { "hgvs": "NM_000206.3:c.455T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363318.3:p.Val152Ala" }, "RefSeq": { "hgvs": "NP_000197.1:p.Val152Ala" } } } }, { "coordinates": [ { "allele": "C", "end": 819, "referenceAllele": "T", "start": 818 } ], "hgvs": [ "ENST00000642473.1:n.819T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS766763" }, { "coordinates": [ { "allele": "C", "end": 860, "endIntronDirection": "+", "endIntronOffset": 209, "referenceAllele": "T", "start": 860, "startIntronDirection": "+", "startIntronOffset": 208 } ], "hgvs": [ "ENST00000644022.1:n.860+209T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767593" }, { "coordinates": [ { "allele": "C", "end": 861, "referenceAllele": "T", "start": 860 } ], "hgvs": [ "ENST00000644708.1:n.861T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767956" }, { "coordinates": [ { "allele": "C", "end": 861, "referenceAllele": "T", "start": 860 } ], "hgvs": [ "ENST00000644911.1:n.861T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS768070" }, { "coordinates": [ { "allele": "C", "end": 487, "referenceAllele": "T", "start": 486 } ], "hgvs": [ "ENST00000645266.1:c.455T>C" ], "proteinEffect": { "hgvs": "ENSP00000493734.1:p.Val152Ala", "hgvsWellDefined": "ENSP00000493734.1:p.Val152Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS768256" }, { "coordinates": [ { "allele": "C", "end": 487, "referenceAllele": "T", "start": 486 } ], "hgvs": [ "ENST00000645518.1:c.455T>C" ], "proteinEffect": { "hgvs": "ENSP00000493986.1:p.Val152Ala", "hgvsWellDefined": "ENSP00000493986.1:p.Val152Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS768396" }, { "coordinates": [ { "allele": "C", "end": 491, "referenceAllele": "T", "start": 490 } ], "hgvs": [ "ENST00000646106.1:c.455T>C" ], "proteinEffect": { "hgvs": "ENSP00000496437.1:p.Val152Ala", "hgvsWellDefined": "ENSP00000496437.1:p.Val152Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS768700" }, { "coordinates": [ { "allele": "C", "end": 487, "referenceAllele": "T", "start": 486 } ], "hgvs": [ "ENST00000646505.1:c.455T>C" ], "proteinEffect": { "hgvs": "ENSP00000496673.1:p.Val152Ala", "hgvsWellDefined": "ENSP00000496673.1:p.Val152Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS768911" }, { "coordinates": [ { "allele": "C", "end": 487, "referenceAllele": "T", "start": 486 } ], "hgvs": [ "ENST00000647492.1:c.455T>C" ], "proteinEffect": { "hgvs": "ENSP00000495340.1:p.Val152Ala", "hgvsWellDefined": "ENSP00000495340.1:p.Val152Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS769447" }, { "coordinates": [ { "allele": "C", "end": 1048, "referenceAllele": "T", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN006010", "geneNCBI_id": 3561, "geneSymbol": "IL2RG", "hgvs": [ "ENST00000276110.6:n.1048T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS252660" }, { "coordinates": [ { "allele": "C", "end": 547, "referenceAllele": "T", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN006010", "geneNCBI_id": 3561, "geneSymbol": "IL2RG", "hgvs": [ "ENST00000374188.7:c.-262T>C" ], "proteinEffect": { "hgvs": "ENSP00000363303.3:n.-262T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS270110" }, { "coordinates": [ { "allele": "C", "end": 547, "referenceAllele": "T", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN006010", "geneNCBI_id": 3561, "geneSymbol": "IL2RG", "hgvs": [ "ENST00000374202.6:c.455T>C" ], "proteinEffect": { "hgvs": "ENSP00000363318.2:p.Val152Ala", "hgvsWellDefined": "ENSP00000363318.2:p.Val152Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS270117" }, { "coordinates": [ { "allele": "C", "end": 24, "endIntronDirection": "-", "endIntronOffset": 904, "referenceAllele": "T", "start": 24, "startIntronDirection": "-", "startIntronOffset": 905 } ], "gene": "http://reg.genome.network/gene/GN006010", "geneNCBI_id": 3561, "geneSymbol": "IL2RG", "hgvs": [ "ENST00000456850.6:c.25-905T>C" ], "proteinEffect": { "hgvs": "ENSP00000388967.2:n.25-905T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS303672" }, { "coordinates": [ { "allele": "C", "end": 447, "referenceAllele": "T", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN006010", "geneNCBI_id": 3561, "geneSymbol": "IL2RG", "hgvs": [ "ENST00000464642.5:c.323T>C" ], "proteinEffect": { "hgvs": "ENSP00000425233.1:p.Val108Ala", "hgvsWellDefined": "ENSP00000425233.1:p.Val108Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS308423" }, { "coordinates": [ { "allele": "C", "end": 850, "referenceAllele": "T", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN006010", "geneNCBI_id": 3561, "geneSymbol": "IL2RG", "hgvs": [ "ENST00000487883.1:c.419T>C" ], "proteinEffect": { "hgvs": "ENSP00000423966.1:p.Val140Ala", "hgvsWellDefined": "ENSP00000423966.1:p.Val140Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS326340" }, { "coordinates": [ { "allele": "C", "end": 521, "endIntronDirection": "+", "endIntronOffset": 209, "referenceAllele": "T", "start": 521, "startIntronDirection": "+", "startIntronOffset": 208 } ], "gene": "http://reg.genome.network/gene/GN006010", "geneNCBI_id": 3561, "geneSymbol": "IL2RG", "hgvs": [ "ENST00000512747.3:n.521+209T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS342670" }, { "@id": "http://reg.genome.network/allele/PA260415", "coordinates": [ { "allele": "C", "end": 547, "referenceAllele": "T", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN006010", "geneNCBI_id": 3561, "geneSymbol": "IL2RG", "hgvs": [ "NM_000206.2:c.455T>C", "LRG_150t1:c.455T>C" ], "proteinEffect": { "hgvs": "NP_000197.1:p.Val152Ala", "hgvsWellDefined": "NP_000197.1:p.Val152Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS006269" }, { "@id": "http://reg.genome.network/allele/PA260415", "coordinates": [ { "allele": "C", "end": 493, "referenceAllele": "T", "start": 492 } ], "gene": "http://reg.genome.network/gene/GN006010", "geneNCBI_id": 3561, "geneSymbol": "IL2RG", "hgvs": [ "NM_000206.3:c.455T>C" ], "proteinEffect": { "hgvs": "NP_000197.1:p.Val152Ala", "hgvsWellDefined": "NP_000197.1:p.Val152Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS674743", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374202.7:c.455T>C" }, "RefSeq": { "hgvs": "NM_000206.3:c.455T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363318.3:p.Val152Ala" }, "RefSeq": { "hgvs": "NP_000197.1:p.Val152Ala" } } } } ], "type": "nucleotide" }