{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10624458",
  "communityStandardTitle": [
    "NM_015713.5(RRM2B):c.*2822A>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=303728[alleleid]",
        "alleleId": 303728,
        "preferredName": "NM_015713.5(RRM2B):c.*2822A>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/361138",
        "RCV": [
          "RCV000300250",
          "RCV000357451"
        ],
        "variationId": 361138
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.103217539T>A?assembly=hg19",
        "id": "chr8:g.103217539T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.102205311T>A?assembly=hg38",
        "id": "chr8:g.102205311T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/189278573",
        "rs": 189278573
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-103217539-T-A?dataset=gnomad_r2_1",
        "id": "8-103217539-T-A",
        "variant": "8:103217539 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-102205311-T-A?dataset=gnomad_r3",
        "id": "8-102205311-T-A",
        "variant": "8:102205311 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-102205311-T-A?dataset=gnomad_r4",
        "id": "8-102205311-T-A",
        "variant": "8:102205311 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 102205311,
          "referenceAllele": "T",
          "start": 102205310
        }
      ],
      "hgvs": [
        "NC_000008.11:g.102205311T>A",
        "CM000670.2:g.102205311T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 103217539,
          "referenceAllele": "T",
          "start": 103217538
        }
      ],
      "hgvs": [
        "NC_000008.10:g.103217539T>A",
        "CM000670.1:g.103217539T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 103286715,
          "referenceAllele": "T",
          "start": 103286714
        }
      ],
      "hgvs": [
        "NC_000008.9:g.103286715T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38808,
          "referenceAllele": "A",
          "start": 38807
        }
      ],
      "hgvs": [
        "NG_016617.1:g.38808A>T",
        "LRG_788:g.38808A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3965,
          "referenceAllele": "A",
          "start": 3964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "ENST00000251810.8:c.*2822A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251810.3:n.*2822A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741497",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251810.8:c.*2822A>T"
          },
          "RefSeq": {
            "hgvs": "NM_015713.5:c.*2822A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251810.3:n.*2822A>T"
          },
          "RefSeq": {
            "hgvs": "NP_056528.2:n.*2822A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4122,
          "referenceAllele": "A",
          "start": 4121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "ENST00000251810.7:c.*2822A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251810.3:n.*2822A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4103,
          "referenceAllele": "A",
          "start": 4102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "NM_001172477.1:c.*2822A>T",
        "LRG_788t1:c.*2822A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165948.1:n.*2822A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3966,
          "referenceAllele": "A",
          "start": 3965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "NM_001172478.1:c.*2822A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165949.1:n.*2822A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4122,
          "referenceAllele": "A",
          "start": 4121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "NM_015713.4:c.*2822A>T",
        "LRG_788t2:c.*2822A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056528.2:n.*2822A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3809,
          "referenceAllele": "A",
          "start": 3808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "NM_001172478.2:c.*2822A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165949.1:n.*2822A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3965,
          "referenceAllele": "A",
          "start": 3964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "NM_015713.5:c.*2822A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056528.2:n.*2822A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251810.8:c.*2822A>T"
          },
          "RefSeq": {
            "hgvs": "NM_015713.5:c.*2822A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251810.3:n.*2822A>T"
          },
          "RefSeq": {
            "hgvs": "NP_056528.2:n.*2822A>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}