{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10216406",
  "communityStandardTitle": [
    "NM_000878.5(IL2RB):c.1173C>A (p.Asp391Glu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3759167"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1159158[alleleid]",
        "alleleId": 1159158,
        "preferredName": "NM_000878.5(IL2RB):c.1173C>A (p.Asp391Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1164671",
        "RCV": [
          "RCV001510887",
          "RCV003490272",
          "RCV003980477"
        ],
        "variationId": 1164671
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-37524619-G-T",
        "id": "22-37524619-G-T",
        "variant": "22:37524619 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.37524619G>T?assembly=hg19",
        "id": "chr22:g.37524619G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.37128579G>T?assembly=hg38",
        "id": "chr22:g.37128579G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/228942",
        "rs": 228942
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-37524619-G-T?dataset=gnomad_r2_1",
        "id": "22-37524619-G-T",
        "variant": "22:37524619 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-37128579-G-T?dataset=gnomad_r3",
        "id": "22-37128579-G-T",
        "variant": "22:37128579 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-37128579-G-T?dataset=gnomad_r4",
        "id": "22-37128579-G-T",
        "variant": "22:37128579 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 37128579,
          "referenceAllele": "G",
          "start": 37128578
        }
      ],
      "hgvs": [
        "NC_000022.11:g.37128579G>T",
        "CM000684.2:g.37128579G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 37524619,
          "referenceAllele": "G",
          "start": 37524618
        }
      ],
      "hgvs": [
        "NC_000022.10:g.37524619G>T",
        "CM000684.1:g.37524619G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 35854565,
          "referenceAllele": "G",
          "start": 35854564
        }
      ],
      "hgvs": [
        "NC_000022.9:g.35854565G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000429622.6:c.1173C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402685.2:p.Asp391Glu",
        "hgvsWellDefined": "ENSP00000402685.2:p.Asp391Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1494,
          "referenceAllele": "C",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000445595.2:c.1173C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401020.2:p.Asp391Glu",
        "hgvsWellDefined": "ENSP00000401020.2:p.Asp391Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000453962.6:c.1173C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403731.2:p.Asp391Glu",
        "hgvsWellDefined": "ENSP00000403731.2:p.Asp391Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1405,
          "referenceAllele": "C",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000698883.1:c.1173C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514005.1:p.Asp391Glu",
        "hgvsWellDefined": "ENSP00000514005.1:p.Asp391Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2048,
          "referenceAllele": "C",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000698890.1:c.1173C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514009.1:p.Asp391Glu",
        "hgvsWellDefined": "ENSP00000514009.1:p.Asp391Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "C",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000698891.1:c.*1165C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514010.1:n.*1165C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000698892.1:c.1173C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514011.1:p.Asp391Glu",
        "hgvsWellDefined": "ENSP00000514011.1:p.Asp391Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "C",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000698893.1:c.1173C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514012.1:p.Asp391Glu",
        "hgvsWellDefined": "ENSP00000514012.1:p.Asp391Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1304,
          "referenceAllele": "C",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000698894.1:c.1191C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514013.1:p.Asp397Glu",
        "hgvsWellDefined": "ENSP00000514013.1:p.Asp397Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1337,
          "referenceAllele": "C",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000698895.1:c.*973C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514014.1:n.*973C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1223,
          "referenceAllele": "C",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000698896.1:c.*932C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514015.1:n.*932C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1296,
          "referenceAllele": "C",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000698902.1:c.1170C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514017.1:p.Asp390Glu",
        "hgvsWellDefined": "ENSP00000514017.1:p.Asp390Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909848"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1283,
          "referenceAllele": "C",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000698903.1:c.1170C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514018.1:p.Asp390Glu",
        "hgvsWellDefined": "ENSP00000514018.1:p.Asp390Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909849"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1260,
          "referenceAllele": "C",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000698904.1:c.1146C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514019.1:p.Asp382Glu",
        "hgvsWellDefined": "ENSP00000514019.1:p.Asp382Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1281,
          "referenceAllele": "C",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000698905.1:c.*347C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514020.1:n.*347C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909851"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1031,
          "endIntronDirection": "+",
          "endIntronOffset": 3805,
          "referenceAllele": "C",
          "start": 1031,
          "startIntronDirection": "+",
          "startIntronOffset": 3804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000703410.1:c.903+3805C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516411.1:n.903+3805C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000216223.10:c.1173C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216223.5:p.Asp391Glu",
        "hgvsWellDefined": "ENSP00000216223.5:p.Asp391Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740286",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216223.10:c.1173C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000878.5:c.1173C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216223.5:p.Asp391Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000869.1:p.Asp391Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1372,
          "referenceAllele": "C",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000216223.9:c.1173C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216223.5:p.Asp391Glu",
        "hgvsWellDefined": "ENSP00000216223.5:p.Asp391Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "ENST00000483573.1:n.651C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825211144",
      "coordinates": [
        {
          "allele": "A",
          "end": 1304,
          "referenceAllele": "C",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "NM_000878.3:c.1173C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000869.1:p.Asp391Glu",
        "hgvsWellDefined": "NP_000869.1:p.Asp391Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006906"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825211144",
      "coordinates": [
        {
          "allele": "A",
          "end": 1372,
          "referenceAllele": "C",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "NM_000878.4:c.1173C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000869.1:p.Asp391Glu",
        "hgvsWellDefined": "NP_000869.1:p.Asp391Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827365456",
      "coordinates": [
        {
          "allele": "A",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "NM_001346222.1:c.1173C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333151.1:p.Asp391Glu",
        "hgvsWellDefined": "NP_001333151.1:p.Asp391Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499249881",
      "coordinates": [
        {
          "allele": "A",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "NM_001346223.1:c.1173C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333152.1:p.Asp391Glu",
        "hgvsWellDefined": "NP_001333152.1:p.Asp391Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517396"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825211144",
      "coordinates": [
        {
          "allele": "A",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "NM_000878.5:c.1173C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000869.1:p.Asp391Glu",
        "hgvsWellDefined": "NP_000869.1:p.Asp391Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662622",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216223.10:c.1173C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000878.5:c.1173C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216223.5:p.Asp391Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000869.1:p.Asp391Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499249881",
      "coordinates": [
        {
          "allele": "A",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006009",
      "geneNCBI_id": 3560,
      "geneSymbol": "IL2RB",
      "hgvs": [
        "NM_001346223.2:c.1173C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333152.1:p.Asp391Glu",
        "hgvsWellDefined": "NP_001333152.1:p.Asp391Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687263"
    }
  ],
  "type": "nucleotide"
}