{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1969297046",
  "communityStandardTitle": [
    "NM_000107.3(DDB2):c.937C= (p.Arg313=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434641",
        "rs": 121434641
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 47235326,
          "referenceAllele": "C",
          "start": 47235325
        }
      ],
      "hgvs": [
        "NC_000011.10:g.47235326C=",
        "CM000673.2:g.47235326C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 47256877,
          "referenceAllele": "C",
          "start": 47256876
        }
      ],
      "hgvs": [
        "NC_000011.9:g.47256877C=",
        "CM000673.1:g.47256877C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 47213453,
          "referenceAllele": "C",
          "start": 47213452
        }
      ],
      "hgvs": [
        "NC_000011.8:g.47213453C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 25385,
          "referenceAllele": "C",
          "start": 25384
        }
      ],
      "hgvs": [
        "NG_009365.1:g.25385C=",
        "LRG_467:g.25385C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1100,
          "referenceAllele": "C",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000256996.9:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256996.4:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256996.9:c.937C="
          },
          "RefSeq": {
            "hgvs": "NM_000107.3:c.937C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256996.4:p.Arg313="
          },
          "RefSeq": {
            "hgvs": "NP_000098.1:p.Arg313="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1132,
          "referenceAllele": "C",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000256996.8:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256996.3:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250232"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 456,
          "endIntronDirection": "-",
          "endIntronOffset": 2510,
          "referenceAllele": "C",
          "start": 456,
          "startIntronDirection": "-",
          "startIntronOffset": 2511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000378600.7:c.457-2511C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367863.3:n.457-2511C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272107"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000378601.7:c.*24C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367864.3:n.*24C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272108"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 745,
          "referenceAllele": "C",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000378603.7:c.745C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367866.3:p.Arg249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272110"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2386,
          "referenceAllele": "C",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000612309.4:n.2386C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "referenceAllele": "C",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000614394.1:n.327C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 613,
          "referenceAllele": "C",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000616278.4:c.613C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478411.1:n.613C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1553,
          "endIntronDirection": "-",
          "endIntronOffset": 2510,
          "referenceAllele": "C",
          "start": 1553,
          "startIntronDirection": "-",
          "startIntronOffset": 2511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000617022.4:n.1554-2511C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 866,
          "referenceAllele": "C",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000617847.4:c.866C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 103,
          "referenceAllele": "C",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000620515.1:n.103C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS404865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077715363",
      "coordinates": [
        {
          "allele": "C",
          "end": 1132,
          "referenceAllele": "C",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_000107.2:c.937C=",
        "LRG_467t1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000098.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "endIntronDirection": "-",
          "endIntronOffset": 2510,
          "referenceAllele": "C",
          "start": 651,
          "startIntronDirection": "-",
          "startIntronOffset": 2511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001300734.1:c.457-2511C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287663.1:n.457-2511C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024797"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 927,
          "referenceAllele": "C",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "XR_242780.3:n.927C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116358"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 927,
          "referenceAllele": "C",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "XR_242780.4:n.927C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077715363",
      "coordinates": [
        {
          "allele": "C",
          "end": 1100,
          "referenceAllele": "C",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_000107.3:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000098.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674703",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256996.9:c.937C="
          },
          "RefSeq": {
            "hgvs": "NM_000107.3:c.937C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256996.4:p.Arg313="
          },
          "RefSeq": {
            "hgvs": "NP_000098.1:p.Arg313="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 619,
          "endIntronDirection": "-",
          "endIntronOffset": 2510,
          "referenceAllele": "C",
          "start": 619,
          "startIntronDirection": "-",
          "startIntronOffset": 2511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001300734.2:c.457-2511C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287663.1:n.457-2511C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1224,
          "referenceAllele": "C",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001399874.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001386803.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1222,
          "referenceAllele": "C",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001399875.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001386804.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783298"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 743,
          "endIntronDirection": "-",
          "endIntronOffset": 2510,
          "referenceAllele": "C",
          "start": 743,
          "startIntronDirection": "-",
          "startIntronOffset": 2511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001399876.1:c.457-2511C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001386805.1:n.457-2511C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 908,
          "referenceAllele": "C",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001399878.1:c.745C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001386807.1:p.Arg249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1188,
          "referenceAllele": "C",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NR_174610.1:n.1188C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1166,
          "referenceAllele": "C",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NR_174611.1:n.1166C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785044"
    }
  ],
  "type": "nucleotide"
}