{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4831184",
  "communityStandardTitle": [
    "NM_015713.5(RRM2B):c.119G>A (p.Arg40His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1152286[alleleid]",
        "alleleId": 1152286,
        "preferredName": "NM_015713.5(RRM2B):c.119G>A (p.Arg40His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1163492",
        "RCV": [
          "RCV001508619",
          "RCV002476811"
        ],
        "variationId": 1163492
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-103244462-C-T",
        "id": "8-103244462-C-T",
        "variant": "8:103244462 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.103244462C>T?assembly=hg19",
        "id": "chr8:g.103244462C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.102232234C>T?assembly=hg38",
        "id": "chr8:g.102232234C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/765953819",
        "rs": 765953819
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-103244462-C-T?dataset=gnomad_r2_1",
        "id": "8-103244462-C-T",
        "variant": "8:103244462 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-102232234-C-T?dataset=gnomad_r3",
        "id": "8-102232234-C-T",
        "variant": "8:102232234 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-102232234-C-T?dataset=gnomad_r4",
        "id": "8-102232234-C-T",
        "variant": "8:102232234 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 102232234,
          "referenceAllele": "C",
          "start": 102232233
        }
      ],
      "hgvs": [
        "NC_000008.11:g.102232234C>T",
        "CM000670.2:g.102232234C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 103244462,
          "referenceAllele": "C",
          "start": 103244461
        }
      ],
      "hgvs": [
        "NC_000008.10:g.103244462C>T",
        "CM000670.1:g.103244462C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 103313638,
          "referenceAllele": "C",
          "start": 103313637
        }
      ],
      "hgvs": [
        "NC_000008.9:g.103313638C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11885,
          "referenceAllele": "G",
          "start": 11884
        }
      ],
      "hgvs": [
        "NG_016617.1:g.11885G>A",
        "LRG_788:g.11885G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 206,
          "referenceAllele": "G",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "ENST00000251810.8:c.119G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251810.3:p.Arg40His",
        "hgvsWellDefined": "ENSP00000251810.3:p.Arg40His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741497",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251810.8:c.119G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015713.5:c.119G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251810.3:p.Arg40His"
          },
          "RefSeq": {
            "hgvs": "NP_056528.2:p.Arg40His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 363,
          "referenceAllele": "G",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "ENST00000251810.7:c.119G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251810.3:p.Arg40His",
        "hgvsWellDefined": "ENSP00000251810.3:p.Arg40His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 48,
          "endIntronDirection": "-",
          "endIntronOffset": 6199,
          "referenceAllele": "G",
          "start": 48,
          "startIntronDirection": "-",
          "startIntronOffset": 6200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "ENST00000395912.6:c.49-6200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379248.2:n.49-6200G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 428,
          "referenceAllele": "G",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "ENST00000517517.1:n.428G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS345181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 48,
          "endIntronDirection": "+",
          "endIntronOffset": 6593,
          "referenceAllele": "G",
          "start": 48,
          "startIntronDirection": "+",
          "startIntronOffset": 6592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "ENST00000519317.5:c.48+6593G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430641.1:n.48+6593G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 48,
          "endIntronDirection": "+",
          "endIntronOffset": 6593,
          "referenceAllele": "G",
          "start": 48,
          "startIntronDirection": "+",
          "startIntronOffset": 6592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "ENST00000519962.5:c.48+6593G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429140.1:n.48+6593G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "ENST00000522368.5:c.288G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS349002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 119,
          "referenceAllele": "G",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "ENST00000522394.1:c.119G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429578.1:p.Arg40His",
        "hgvsWellDefined": "ENSP00000429578.1:p.Arg40His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 305,
          "referenceAllele": "G",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "ENST00000523957.1:c.*42G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427830.1:n.*42G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "ENST00000621845.1:c.-44G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484318.1:n.-44G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826066231",
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "referenceAllele": "G",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "NM_001172477.1:c.335G>A",
        "LRG_788t1:c.335G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165948.1:p.Arg112His",
        "hgvsWellDefined": "NP_001165948.1:p.Arg112His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 292,
          "endIntronDirection": "-",
          "endIntronOffset": 6199,
          "referenceAllele": "G",
          "start": 292,
          "startIntronDirection": "-",
          "startIntronOffset": 6200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "NM_001172478.1:c.49-6200G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165949.1:n.49-6200G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499281964",
      "coordinates": [
        {
          "allele": "A",
          "end": 363,
          "referenceAllele": "G",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "NM_015713.4:c.119G>A",
        "LRG_788t2:c.119G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056528.2:p.Arg40His",
        "hgvsWellDefined": "NP_056528.2:p.Arg40His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "endIntronDirection": "-",
          "endIntronOffset": 6199,
          "referenceAllele": "G",
          "start": 135,
          "startIntronDirection": "-",
          "startIntronOffset": 6200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "NM_001172478.2:c.49-6200G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165949.1:n.49-6200G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499281964",
      "coordinates": [
        {
          "allele": "A",
          "end": 206,
          "referenceAllele": "G",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017296",
      "geneNCBI_id": 50484,
      "geneSymbol": "RRM2B",
      "hgvs": [
        "NM_015713.5:c.119G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056528.2:p.Arg40His",
        "hgvsWellDefined": "NP_056528.2:p.Arg40His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251810.8:c.119G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015713.5:c.119G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251810.3:p.Arg40His"
          },
          "RefSeq": {
            "hgvs": "NP_056528.2:p.Arg40His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}