{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10213761",
  "communityStandardTitle": [
    "NM_000395.3(CSF2RB):c.1278C>T (p.Ser426=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3759164"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=231177[alleleid]",
        "alleleId": 231177,
        "preferredName": "NM_000395.3(CSF2RB):c.1278C>T (p.Ser426=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/226545",
        "RCV": [
          "RCV000216776",
          "RCV001523576"
        ],
        "variationId": 226545
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-37329999-C-T",
        "id": "22-37329999-C-T",
        "variant": "22:37329999 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.37329999C>T?assembly=hg19",
        "id": "chr22:g.37329999C>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.37329999_37330000delinsTG?assembly=hg19",
        "id": "chr22:g.37329999_37330000delinsTG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.36933957C>T?assembly=hg38",
        "id": "chr22:g.36933957C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1801117",
        "rs": 1801117
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-37329999-C-T?dataset=gnomad_r2_1",
        "id": "22-37329999-C-T",
        "variant": "22:37329999 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36933957-C-T?dataset=gnomad_r3",
        "id": "22-36933957-C-T",
        "variant": "22:36933957 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36933957-C-T?dataset=gnomad_r4",
        "id": "22-36933957-C-T",
        "variant": "22:36933957 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 36933957,
          "referenceAllele": "C",
          "start": 36933956
        }
      ],
      "hgvs": [
        "NC_000022.11:g.36933957C>T",
        "CM000684.2:g.36933957C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 37329999,
          "referenceAllele": "C",
          "start": 37329998
        }
      ],
      "hgvs": [
        "NC_000022.10:g.37329999C>T",
        "CM000684.1:g.37329999C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 35659945,
          "referenceAllele": "C",
          "start": 35659944
        }
      ],
      "hgvs": [
        "NC_000022.9:g.35659945C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25325,
          "referenceAllele": "C",
          "start": 25324
        }
      ],
      "hgvs": [
        "NG_008040.1:g.25325C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000796"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1500,
          "referenceAllele": "C",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002436",
      "geneNCBI_id": 1439,
      "geneSymbol": "CSF2RB",
      "hgvs": [
        "ENST00000403662.8:c.1278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384053.3:p.Ser426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754054",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403662.8:c.1278C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000395.3:c.1278C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384053.3:p.Ser426="
          },
          "RefSeq": {
            "hgvs": "NP_000386.1:p.Ser426="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1495,
          "referenceAllele": "C",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002436",
      "geneNCBI_id": 1439,
      "geneSymbol": "CSF2RB",
      "hgvs": [
        "ENST00000262825.9:c.1278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262825.6:p.Ser426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1500,
          "referenceAllele": "C",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002436",
      "geneNCBI_id": 1439,
      "geneSymbol": "CSF2RB",
      "hgvs": [
        "ENST00000403662.7:c.1278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384053.3:p.Ser426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1370,
          "referenceAllele": "C",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002436",
      "geneNCBI_id": 1439,
      "geneSymbol": "CSF2RB",
      "hgvs": [
        "ENST00000406230.5:c.1296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385271.1:p.Ser432="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825157424",
      "coordinates": [
        {
          "allele": "T",
          "end": 1495,
          "referenceAllele": "C",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002436",
      "geneNCBI_id": 1439,
      "geneSymbol": "CSF2RB",
      "hgvs": [
        "NM_000395.2:c.1278C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000386.1:p.Ser426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002436",
      "geneNCBI_id": 1439,
      "geneSymbol": "CSF2RB",
      "hgvs": [
        "XM_005261340.2:c.1296C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261397.1:p.Ser432="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002436",
      "geneNCBI_id": 1439,
      "geneSymbol": "CSF2RB",
      "hgvs": [
        "XM_011529903.1:c.1296C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528205.1:p.Ser432="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1553,
          "referenceAllele": "C",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002436",
      "geneNCBI_id": 1439,
      "geneSymbol": "CSF2RB",
      "hgvs": [
        "XM_011529904.1:c.1278C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528206.1:p.Ser426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002436",
      "geneNCBI_id": 1439,
      "geneSymbol": "CSF2RB",
      "hgvs": [
        "XM_011529905.1:c.1296C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528207.1:p.Ser432="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1572,
          "referenceAllele": "C",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002436",
      "geneNCBI_id": 1439,
      "geneSymbol": "CSF2RB",
      "hgvs": [
        "XM_005261340.3:c.1296C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261397.1:p.Ser432="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1572,
          "referenceAllele": "C",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002436",
      "geneNCBI_id": 1439,
      "geneSymbol": "CSF2RB",
      "hgvs": [
        "XM_011529903.2:c.1296C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528205.1:p.Ser432="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002436",
      "geneNCBI_id": 1439,
      "geneSymbol": "CSF2RB",
      "hgvs": [
        "XM_011529904.2:c.1278C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528206.1:p.Ser426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1572,
          "referenceAllele": "C",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002436",
      "geneNCBI_id": 1439,
      "geneSymbol": "CSF2RB",
      "hgvs": [
        "XM_011529905.2:c.1296C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528207.1:p.Ser432="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825157424",
      "coordinates": [
        {
          "allele": "T",
          "end": 1500,
          "referenceAllele": "C",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002436",
      "geneNCBI_id": 1439,
      "geneSymbol": "CSF2RB",
      "hgvs": [
        "NM_000395.3:c.1278C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000386.1:p.Ser426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662425",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403662.8:c.1278C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000395.3:c.1278C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384053.3:p.Ser426="
          },
          "RefSeq": {
            "hgvs": "NP_000386.1:p.Ser426="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}