{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA516706316",
  "communityStandardTitle": [
    "NM_000206.3(IL2RG):c.66G>T (p.Gly22=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.70331324C>A?assembly=hg19",
        "id": "chrX:g.70331324C>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 71111474,
          "referenceAllele": "C",
          "start": 71111473
        }
      ],
      "hgvs": [
        "NC_000023.11:g.71111474C>A",
        "CM000685.2:g.71111474C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 70331324,
          "referenceAllele": "C",
          "start": 70331323
        }
      ],
      "hgvs": [
        "NC_000023.10:g.70331324C>A",
        "CM000685.1:g.70331324C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 70248049,
          "referenceAllele": "C",
          "start": 70248048
        }
      ],
      "hgvs": [
        "NC_000023.9:g.70248049C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5080,
          "referenceAllele": "G",
          "start": 5079
        }
      ],
      "hgvs": [
        "NG_009088.1:g.5080G>T",
        "LRG_150:g.5080G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 315,
          "referenceAllele": "G",
          "start": 314
        }
      ],
      "hgvs": [
        "NG_021141.1:g.315G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003443"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 117,
          "referenceAllele": "G",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000482750.6:c.66G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421262.2:p.Gly22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 117,
          "referenceAllele": "G",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000696903.1:n.117G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 104,
          "referenceAllele": "G",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000374202.7:c.66G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363318.3:p.Gly22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751388",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374202.7:c.66G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000206.3:c.66G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363318.3:p.Gly22="
          },
          "RefSeq": {
            "hgvs": "NP_000197.1:p.Gly22="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56,
          "referenceAllele": "G",
          "start": 55
        }
      ],
      "hgvs": [
        "ENST00000642473.1:n.56G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98,
          "referenceAllele": "G",
          "start": 97
        }
      ],
      "hgvs": [
        "ENST00000644022.1:n.98G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98,
          "referenceAllele": "G",
          "start": 97
        }
      ],
      "hgvs": [
        "ENST00000644708.1:n.98G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98,
          "referenceAllele": "G",
          "start": 97
        }
      ],
      "hgvs": [
        "ENST00000644911.1:n.98G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98,
          "referenceAllele": "G",
          "start": 97
        }
      ],
      "hgvs": [
        "ENST00000645266.1:c.66G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493734.1:p.Gly22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98,
          "referenceAllele": "G",
          "start": 97
        }
      ],
      "hgvs": [
        "ENST00000645518.1:c.66G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493986.1:p.Gly22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 102,
          "referenceAllele": "G",
          "start": 101
        }
      ],
      "hgvs": [
        "ENST00000646106.1:c.66G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496437.1:p.Gly22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98,
          "referenceAllele": "G",
          "start": 97
        }
      ],
      "hgvs": [
        "ENST00000646505.1:c.66G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496673.1:p.Gly22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98,
          "referenceAllele": "G",
          "start": 97
        }
      ],
      "hgvs": [
        "ENST00000647492.1:c.66G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495340.1:p.Gly22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 77,
          "referenceAllele": "G",
          "start": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000276110.6:n.77G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS252660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 158,
          "referenceAllele": "G",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000374188.7:c.-651G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363303.3:n.-651G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 158,
          "referenceAllele": "G",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000374202.6:c.66G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363318.2:p.Gly22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 58,
          "referenceAllele": "G",
          "start": 57
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000464642.5:c.-67G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425233.1:n.-67G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000473378.1:c.-26G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423601.1:n.-26G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 87,
          "referenceAllele": "G",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000487883.1:c.-345G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423966.1:n.-345G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 133,
          "referenceAllele": "G",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "ENST00000512747.3:n.133G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3089130249",
      "coordinates": [
        {
          "allele": "T",
          "end": 158,
          "referenceAllele": "G",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "NM_000206.2:c.66G>T",
        "LRG_150t1:c.66G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000197.1:p.Gly22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3089130249",
      "coordinates": [
        {
          "allele": "T",
          "end": 104,
          "referenceAllele": "G",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "NM_000206.3:c.66G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000197.1:p.Gly22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674743",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374202.7:c.66G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000206.3:c.66G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363318.3:p.Gly22="
          },
          "RefSeq": {
            "hgvs": "NP_000197.1:p.Gly22="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}