{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA254990",
  "communityStandardTitle": [
    "NM_000206.3(IL2RG):c.343T>C (p.Cys115Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25064[alleleid]",
        "alleleId": 25064,
        "preferredName": "NM_000206.3(IL2RG):c.343T>C (p.Cys115Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10025",
        "RCV": [
          "RCV000010708"
        ],
        "variationId": 10025
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.70330465A>G?assembly=hg19",
        "id": "chrX:g.70330465A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.71110615A>G?assembly=hg38",
        "id": "chrX:g.71110615A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033622",
        "rs": 111033622
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 71110615,
          "referenceAllele": "A",
          "start": 71110614
        }
      ],
      "hgvs": [
        "NC_000023.11:g.71110615A>G",
        "CM000685.2:g.71110615A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 70330465,
          "referenceAllele": "A",
          "start": 70330464
        }
      ],
      "hgvs": [
        "NC_000023.10:g.70330465A>G",
        "CM000685.1:g.70330465A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 70247190,
          "referenceAllele": "A",
          "start": 70247189
        }
      ],
      "hgvs": [
        "NC_000023.9:g.70247190A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5939,
          "referenceAllele": "T",
          "start": 5938
        }
      ],
      "hgvs": [
        "NG_009088.1:g.5939T>C",
        "LRG_150:g.5939T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1174,
          "referenceAllele": "T",
          "start": 1173
        }
      ],
      "hgvs": [
        "NG_021141.1:g.1174T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003443"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 394,
          "referenceAllele": "T",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000482750.6:c.343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421262.2:p.Cys115Arg",
        "hgvsWellDefined": "ENSP00000421262.2:p.Cys115Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905296"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 394,
          "referenceAllele": "T",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000696903.1:n.394T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 381,
          "referenceAllele": "T",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000374202.7:c.343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363318.3:p.Cys115Arg",
        "hgvsWellDefined": "ENSP00000363318.3:p.Cys115Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751388",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374202.7:c.343T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000206.3:c.343T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363318.3:p.Cys115Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000197.1:p.Cys115Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 707,
          "referenceAllele": "T",
          "start": 706
        }
      ],
      "hgvs": [
        "ENST00000642473.1:n.707T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 749,
          "referenceAllele": "T",
          "start": 748
        }
      ],
      "hgvs": [
        "ENST00000644022.1:n.749T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767593"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 749,
          "referenceAllele": "T",
          "start": 748
        }
      ],
      "hgvs": [
        "ENST00000644708.1:n.749T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767956"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 749,
          "referenceAllele": "T",
          "start": 748
        }
      ],
      "hgvs": [
        "ENST00000644911.1:n.749T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 375,
          "referenceAllele": "T",
          "start": 374
        }
      ],
      "hgvs": [
        "ENST00000645266.1:c.343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493734.1:p.Cys115Arg",
        "hgvsWellDefined": "ENSP00000493734.1:p.Cys115Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 375,
          "referenceAllele": "T",
          "start": 374
        }
      ],
      "hgvs": [
        "ENST00000645518.1:c.343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493986.1:p.Cys115Arg",
        "hgvsWellDefined": "ENSP00000493986.1:p.Cys115Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "T",
          "start": 378
        }
      ],
      "hgvs": [
        "ENST00000646106.1:c.343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496437.1:p.Cys115Arg",
        "hgvsWellDefined": "ENSP00000496437.1:p.Cys115Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 375,
          "referenceAllele": "T",
          "start": 374
        }
      ],
      "hgvs": [
        "ENST00000646505.1:c.343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496673.1:p.Cys115Arg",
        "hgvsWellDefined": "ENSP00000496673.1:p.Cys115Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 375,
          "referenceAllele": "T",
          "start": 374
        }
      ],
      "hgvs": [
        "ENST00000647492.1:c.343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495340.1:p.Cys115Arg",
        "hgvsWellDefined": "ENSP00000495340.1:p.Cys115Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769447"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "referenceAllele": "T",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000276110.6:n.728T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS252660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "T",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000374188.7:c.-374T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363303.3:n.-374T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270110"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "T",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000374202.6:c.343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363318.2:p.Cys115Arg",
        "hgvsWellDefined": "ENSP00000363318.2:p.Cys115Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 24,
          "endIntronDirection": "+",
          "endIntronOffset": 810,
          "referenceAllele": "T",
          "start": 24,
          "startIntronDirection": "+",
          "startIntronOffset": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000456850.6:c.24+810T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388967.2:n.24+810T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 335,
          "referenceAllele": "T",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000464642.5:c.211T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425233.1:p.Cys71Arg",
        "hgvsWellDefined": "ENSP00000425233.1:p.Cys71Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 386,
          "referenceAllele": "T",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000473378.1:c.280T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423601.1:p.Cys94Arg",
        "hgvsWellDefined": "ENSP00000423601.1:p.Cys94Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "T",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000487883.1:c.307T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423966.1:p.Cys103Arg",
        "hgvsWellDefined": "ENSP00000423966.1:p.Cys103Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 410,
          "referenceAllele": "T",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000512747.3:n.410T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108401",
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "T",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "NM_000206.2:c.343T>C",
        "LRG_150t1:c.343T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000197.1:p.Cys115Arg",
        "hgvsWellDefined": "NP_000197.1:p.Cys115Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108401",
      "coordinates": [
        {
          "allele": "C",
          "end": 381,
          "referenceAllele": "T",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "NM_000206.3:c.343T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000197.1:p.Cys115Arg",
        "hgvsWellDefined": "NP_000197.1:p.Cys115Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674743",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374202.7:c.343T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000206.3:c.343T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363318.3:p.Cys115Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000197.1:p.Cys115Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}