{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA370198828",
  "communityStandardTitle": [
    "NM_005431.2(XRCC2):c.377T>G (p.Leu126Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1796637[alleleid]",
        "alleleId": 1796637,
        "preferredName": "NM_005431.2(XRCC2):c.377T>G (p.Leu126Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1734845",
        "RCV": [
          "RCV002363888",
          "RCV003476955"
        ],
        "variationId": 1734845
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.152346193A>C?assembly=hg19",
        "id": "chr7:g.152346193A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.152649108A>C?assembly=hg38",
        "id": "chr7:g.152649108A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794088",
        "rs": 1064794088
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-152649108-A-C?dataset=gnomad_r4",
        "id": "7-152649108-A-C",
        "variant": "7:152649108 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 152649108,
          "referenceAllele": "A",
          "start": 152649107
        }
      ],
      "hgvs": [
        "NC_000007.14:g.152649108A>C",
        "CM000669.2:g.152649108A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 152346193,
          "referenceAllele": "A",
          "start": 152346192
        }
      ],
      "hgvs": [
        "NC_000007.13:g.152346193A>C",
        "CM000669.1:g.152346193A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 151977126,
          "referenceAllele": "A",
          "start": 151977125
        }
      ],
      "hgvs": [
        "NC_000007.12:g.151977126A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32058,
          "referenceAllele": "T",
          "start": 32057
        }
      ],
      "hgvs": [
        "NG_027988.1:g.32058T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32058,
          "referenceAllele": "T",
          "start": 32057
        }
      ],
      "hgvs": [
        "NG_027988.2:g.32058T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673752"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 409,
          "referenceAllele": "T",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "ENST00000698506.1:c.209T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513758.1:p.Leu70Ter",
        "hgvsWellDefined": "ENSP00000513758.1:p.Leu72_Cys224delinsThrLeuTyrSerLeuGluSerMetPheCysSerHisProSerLeuCysLeuLeuIleLeuAspSerLeuSerAlaPheTyrTrpIleAspArgValAsnGlyGlyGluSerValAsnLeuGlnGluSerThrLeuArgLysCysSerGlnCysLeuGluLysLeuValAsnAspTyrArgLeuValLeuPheAlaThrThrGlnThrIleMetGlnLysAlaSerSerSerSerGluGluProSerHisAlaSerArgArgLeuCysAspValAspIleAspTyrArgProTyrLeuCysLysAlaTrpGlnGlnLeuValLysHisArgMetPhePheSerLysGlnAspAspSerGlnSerSerAsnGlnPheSerLeuValSerArgCysLeuLysSerAsnSerLeuLysLysHisPhePheIleIleGlyGluSerGlyValGluPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 439,
          "referenceAllele": "T",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "ENST00000359321.2:c.377T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352271.1:p.Leu126Ter",
        "hgvsWellDefined": "ENSP00000352271.1:p.Leu128_Cys280delinsThrLeuTyrSerLeuGluSerMetPheCysSerHisProSerLeuCysLeuLeuIleLeuAspSerLeuSerAlaPheTyrTrpIleAspArgValAsnGlyGlyGluSerValAsnLeuGlnGluSerThrLeuArgLysCysSerGlnCysLeuGluLysLeuValAsnAspTyrArgLeuValLeuPheAlaThrThrGlnThrIleMetGlnLysAlaSerSerSerSerGluGluProSerHisAlaSerArgArgLeuCysAspValAspIleAspTyrArgProTyrLeuCysLysAlaTrpGlnGlnLeuValLysHisArgMetPhePheSerLysGlnAspAspSerGlnSerSerAsnGlnPheSerLeuValSerArgCysLeuLysSerAsnSerLeuLysLysHisPhePheIleIleGlyGluSerGlyValGluPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749182",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359321.2:c.377T>G"
          },
          "RefSeq": {
            "hgvs": "NM_005431.2:c.377T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352271.1:p.Leu126Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005422.1:p.Leu126Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 463,
          "referenceAllele": "T",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "ENST00000359321.1:c.377T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352271.1:p.Leu126Ter",
        "hgvsWellDefined": "ENSP00000352271.1:p.Leu128_Cys280delinsThrLeuTyrSerLeuGluSerMetPheCysSerHisProSerLeuCysLeuLeuIleLeuAspSerLeuSerAlaPheTyrTrpIleAspArgValAsnGlyGlyGluSerValAsnLeuGlnGluSerThrLeuArgLysCysSerGlnCysLeuGluLysLeuValAsnAspTyrArgLeuValLeuPheAlaThrThrGlnThrIleMetGlnLysAlaSerSerSerSerGluGluProSerHisAlaSerArgArgLeuCysAspValAspIleAspTyrArgProTyrLeuCysLysAlaTrpGlnGlnLeuValLysHisArgMetPhePheSerLysGlnAspAspSerGlnSerSerAsnGlnPheSerLeuValSerArgCysLeuLysSerAsnSerLeuLysLysHisPhePheIleIleGlyGluSerGlyValGluPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264755"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 399,
          "referenceAllele": "T",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "ENST00000495707.1:n.399T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645423503",
      "coordinates": [
        {
          "allele": "G",
          "end": 463,
          "referenceAllele": "T",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "NM_005431.1:c.377T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005422.1:p.Leu126Ter",
        "hgvsWellDefined": "NP_005422.1:p.Leu128_Cys280delinsThrLeuTyrSerLeuGluSerMetPheCysSerHisProSerLeuCysLeuLeuIleLeuAspSerLeuSerAlaPheTyrTrpIleAspArgValAsnGlyGlyGluSerValAsnLeuGlnGluSerThrLeuArgLysCysSerGlnCysLeuGluLysLeuValAsnAspTyrArgLeuValLeuPheAlaThrThrGlnThrIleMetGlnLysAlaSerSerSerSerGluGluProSerHisAlaSerArgArgLeuCysAspValAspIleAspTyrArgProTyrLeuCysLysAlaTrpGlnGlnLeuValLysHisArgMetPhePheSerLysGlnAspAspSerGlnSerSerAsnGlnPheSerLeuValSerArgCysLeuLysSerAsnSerLeuLysLysHisPhePheIleIleGlyGluSerGlyValGluPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645423503",
      "coordinates": [
        {
          "allele": "G",
          "end": 439,
          "referenceAllele": "T",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012829",
      "geneNCBI_id": 7516,
      "geneSymbol": "XRCC2",
      "hgvs": [
        "NM_005431.2:c.377T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005422.1:p.Leu126Ter",
        "hgvsWellDefined": "NP_005422.1:p.Leu128_Cys280delinsThrLeuTyrSerLeuGluSerMetPheCysSerHisProSerLeuCysLeuLeuIleLeuAspSerLeuSerAlaPheTyrTrpIleAspArgValAsnGlyGlyGluSerValAsnLeuGlnGluSerThrLeuArgLysCysSerGlnCysLeuGluLysLeuValAsnAspTyrArgLeuValLeuPheAlaThrThrGlnThrIleMetGlnLysAlaSerSerSerSerGluGluProSerHisAlaSerArgArgLeuCysAspValAspIleAspTyrArgProTyrLeuCysLysAlaTrpGlnGlnLeuValLysHisArgMetPhePheSerLysGlnAspAspSerGlnSerSerAsnGlnPheSerLeuValSerArgCysLeuLysSerAsnSerLeuLysLysHisPhePheIleIleGlyGluSerGlyValGluPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666963",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359321.2:c.377T>G"
          },
          "RefSeq": {
            "hgvs": "NM_005431.2:c.377T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352271.1:p.Leu126Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005422.1:p.Leu126Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}