{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1753247450",
  "communityStandardTitle": [
    "NM_005431.2(XRCC2):c.377T= (p.Leu126=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794088",
        "rs": 1064794088
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 152649108,
          "referenceAllele": "A",
          "start": 152649107
        }
      ],
      "hgvs": [
        "NC_000007.14:g.152649108A=",
        "CM000669.2:g.152649108A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 152346193,
          "referenceAllele": "A",
          "start": 152346192
        }
      ],
      "hgvs": [
        "NC_000007.13:g.152346193A=",
        "CM000669.1:g.152346193A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 151977126,
          "referenceAllele": "A",
          "start": 151977125
        }
      ],
      "hgvs": [
        "NC_000007.12:g.151977126A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32058,
          "referenceAllele": "T",
          "start": 32057
        }
      ],
      "hgvs": [
        "NG_027988.1:g.32058T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32058,
          "referenceAllele": "T",
          "start": 32057
        }
      ],
      "hgvs": [
        "NG_027988.2:g.32058T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673752"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 409,
          "referenceAllele": "T",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "ENST00000698506.1:c.209T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513758.1:p.Leu70="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "T",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "ENST00000359321.2:c.377T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352271.1:p.Leu126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749182",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359321.2:c.377T="
          },
          "RefSeq": {
            "hgvs": "NM_005431.2:c.377T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352271.1:p.Leu126="
          },
          "RefSeq": {
            "hgvs": "NP_005422.1:p.Leu126="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "T",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "ENST00000359321.1:c.377T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352271.1:p.Leu126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "referenceAllele": "T",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "ENST00000495707.1:n.399T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829583727",
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "T",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "NM_005431.1:c.377T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005422.1:p.Leu126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829583727",
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "T",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "NM_005431.2:c.377T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005422.1:p.Leu126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666963",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359321.2:c.377T="
          },
          "RefSeq": {
            "hgvs": "NM_005431.2:c.377T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352271.1:p.Leu126="
          },
          "RefSeq": {
            "hgvs": "NP_005422.1:p.Leu126="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}