{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA458895234",
  "communityStandardTitle": [
    "NM_005431.2(XRCC2):c.756A>G (p.Gln252=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=808990[alleleid]",
        "alleleId": 808990,
        "preferredName": "NM_005431.2(XRCC2):c.756A>G (p.Gln252=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/827128",
        "RCV": [
          "RCV001026574"
        ],
        "variationId": 827128
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.152345814T>C?assembly=hg19",
        "id": "chr7:g.152345814T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1590129217",
        "rs": 1590129217
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 152648729,
          "referenceAllele": "T",
          "start": 152648728
        }
      ],
      "hgvs": [
        "NC_000007.14:g.152648729T>C",
        "CM000669.2:g.152648729T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 152345814,
          "referenceAllele": "T",
          "start": 152345813
        }
      ],
      "hgvs": [
        "NC_000007.13:g.152345814T>C",
        "CM000669.1:g.152345814T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 151976747,
          "referenceAllele": "T",
          "start": 151976746
        }
      ],
      "hgvs": [
        "NC_000007.12:g.151976747T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32437,
          "referenceAllele": "A",
          "start": 32436
        }
      ],
      "hgvs": [
        "NG_027988.1:g.32437A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32437,
          "referenceAllele": "A",
          "start": 32436
        }
      ],
      "hgvs": [
        "NG_027988.2:g.32437A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673752"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 788,
          "referenceAllele": "A",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "ENST00000698506.1:c.588A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513758.1:p.Gln196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 818,
          "referenceAllele": "A",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "ENST00000359321.2:c.756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352271.1:p.Gln252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749182",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359321.2:c.756A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005431.2:c.756A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352271.1:p.Gln252="
          },
          "RefSeq": {
            "hgvs": "NP_005422.1:p.Gln252="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "referenceAllele": "A",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "ENST00000359321.1:c.756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352271.1:p.Gln252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264755"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "referenceAllele": "A",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "ENST00000495707.1:n.778A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829584244",
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "referenceAllele": "A",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "NM_005431.1:c.756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005422.1:p.Gln252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829584244",
      "coordinates": [
        {
          "allele": "G",
          "end": 818,
          "referenceAllele": "A",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "NM_005431.2:c.756A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005422.1:p.Gln252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666963",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359321.2:c.756A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005431.2:c.756A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352271.1:p.Gln252="
          },
          "RefSeq": {
            "hgvs": "NP_005422.1:p.Gln252="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}