{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5972570",
  "communityStandardTitle": [
    "NM_000107.3(DDB2):c.619C>T (p.Leu207=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1684590[alleleid]",
        "alleleId": 1684590,
        "preferredName": "NM_000107.3(DDB2):c.619C>T (p.Leu207=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1692149",
        "RCV": [
          "RCV002258481"
        ],
        "variationId": 1692149
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-47256140-C-T",
        "id": "11-47256140-C-T",
        "variant": "11:47256140 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47256140C>T?assembly=hg19",
        "id": "chr11:g.47256140C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47234589C>T?assembly=hg38",
        "id": "chr11:g.47234589C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753070223",
        "rs": 753070223
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47256140-C-T?dataset=gnomad_r2_1",
        "id": "11-47256140-C-T",
        "variant": "11:47256140 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47234589-C-T?dataset=gnomad_r3",
        "id": "11-47234589-C-T",
        "variant": "11:47234589 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47234589-C-T?dataset=gnomad_r4",
        "id": "11-47234589-C-T",
        "variant": "11:47234589 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 47234589,
          "referenceAllele": "C",
          "start": 47234588
        }
      ],
      "hgvs": [
        "NC_000011.10:g.47234589C>T",
        "CM000673.2:g.47234589C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 47256140,
          "referenceAllele": "C",
          "start": 47256139
        }
      ],
      "hgvs": [
        "NC_000011.9:g.47256140C>T",
        "CM000673.1:g.47256140C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 47212716,
          "referenceAllele": "C",
          "start": 47212715
        }
      ],
      "hgvs": [
        "NC_000011.8:g.47212716C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24648,
          "referenceAllele": "C",
          "start": 24647
        }
      ],
      "hgvs": [
        "NG_009365.1:g.24648C>T",
        "LRG_467:g.24648C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000256996.9:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256996.4:p.Leu207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256996.9:c.619C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000107.3:c.619C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256996.4:p.Leu207="
          },
          "RefSeq": {
            "hgvs": "NP_000098.1:p.Leu207="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000256996.8:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256996.3:p.Leu207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "endIntronDirection": "-",
          "endIntronOffset": 3247,
          "referenceAllele": "C",
          "start": 456,
          "startIntronDirection": "-",
          "startIntronOffset": 3248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000378600.7:c.457-3248C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367863.3:n.457-3248C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "referenceAllele": "C",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000378601.7:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367864.3:p.Leu207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272108"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "referenceAllele": "C",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000378603.7:c.427C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367866.3:p.Leu143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1733,
          "referenceAllele": "C",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000612309.4:n.1733C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9,
          "referenceAllele": "C",
          "start": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000614394.1:n.9C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 788,
          "referenceAllele": "C",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000614825.4:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483718.1:p.Leu207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "referenceAllele": "C",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000616278.4:c.473C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478411.1:n.473C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1553,
          "endIntronDirection": "-",
          "endIntronOffset": 3247,
          "referenceAllele": "C",
          "start": 1553,
          "startIntronDirection": "-",
          "startIntronOffset": 3248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000617022.4:n.1554-3248C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "C",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000617847.4:c.548C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825069711",
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_000107.2:c.619C>T",
        "LRG_467t1:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000098.1:p.Leu207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "endIntronDirection": "-",
          "endIntronOffset": 3247,
          "referenceAllele": "C",
          "start": 651,
          "startIntronDirection": "-",
          "startIntronOffset": 3248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001300734.1:c.457-3248C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287663.1:n.457-3248C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "C",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "XR_242780.3:n.787C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "C",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "XR_242780.4:n.787C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825069711",
      "coordinates": [
        {
          "allele": "T",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_000107.3:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000098.1:p.Leu207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674703",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256996.9:c.619C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000107.3:c.619C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256996.4:p.Leu207="
          },
          "RefSeq": {
            "hgvs": "NP_000098.1:p.Leu207="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "endIntronDirection": "-",
          "endIntronOffset": 3247,
          "referenceAllele": "C",
          "start": 619,
          "startIntronDirection": "-",
          "startIntronOffset": 3248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001300734.2:c.457-3248C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287663.1:n.457-3248C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716855"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829287825",
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001399874.1:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386803.1:p.Leu207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829287855",
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001399875.1:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386804.1:p.Leu207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 743,
          "endIntronDirection": "-",
          "endIntronOffset": 3247,
          "referenceAllele": "C",
          "start": 743,
          "startIntronDirection": "-",
          "startIntronOffset": 3248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001399876.1:c.457-3248C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386805.1:n.457-3248C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783299"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829287881",
      "coordinates": [
        {
          "allele": "T",
          "end": 590,
          "referenceAllele": "C",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001399878.1:c.427C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386807.1:p.Leu143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1048,
          "referenceAllele": "C",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NR_174610.1:n.1048C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NR_174611.1:n.906C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785044"
    }
  ],
  "type": "nucleotide"
}