{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2044083971",
  "communityStandardTitle": [
    "NM_002392.6(MDM2):c.*1777G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1690916",
        "rs": 1690916
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 68841626,
          "referenceAllele": "G",
          "start": 68841625
        }
      ],
      "hgvs": [
        "NC_000012.12:g.68841626G=",
        "CM000674.2:g.68841626G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 69235406,
          "referenceAllele": "G",
          "start": 69235405
        }
      ],
      "hgvs": [
        "NC_000012.11:g.69235406G=",
        "CM000674.1:g.69235406G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 67521673,
          "referenceAllele": "G",
          "start": 67521672
        }
      ],
      "hgvs": [
        "NC_000012.10:g.67521673G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 38436,
          "referenceAllele": "G",
          "start": 38435
        }
      ],
      "hgvs": [
        "NG_016708.1:g.38436G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003253"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3572,
          "referenceAllele": "G",
          "start": 3571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "ENST00000258149.11:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258149.6:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823609",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258149.11:c.*1777G="
          },
          "RefSeq": {
            "hgvs": "NM_002392.6:c.*1777G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258149.6:n.*1777G="
          },
          "RefSeq": {
            "hgvs": "NP_002383.2:n.*1777G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3572,
          "referenceAllele": "G",
          "start": 3571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "ENST00000258149.10:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258149.6:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3573,
          "referenceAllele": "G",
          "start": 3572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "ENST00000258149.9:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258149.6:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2817,
          "referenceAllele": "G",
          "start": 2816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "ENST00000356290.8:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348637.4:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263711"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3502,
          "referenceAllele": "G",
          "start": 3501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "ENST00000462284.5:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417281.2:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306580"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3186,
          "referenceAllele": "G",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "NM_001145337.2:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138809.1:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013595"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3412,
          "referenceAllele": "G",
          "start": 3411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "NM_001145339.2:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138811.1:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2739,
          "referenceAllele": "G",
          "start": 2738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "NM_001145340.2:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138812.1:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2817,
          "referenceAllele": "G",
          "start": 2816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "NM_001278462.1:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265391.1:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3577,
          "referenceAllele": "G",
          "start": 3576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "NM_002392.5:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002383.2:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027698"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3654,
          "referenceAllele": "G",
          "start": 3653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "XM_005268872.5:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268929.1:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3160,
          "referenceAllele": "G",
          "start": 3159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "XM_006719399.4:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719462.1:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539846"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3466,
          "referenceAllele": "G",
          "start": 3465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "XM_006719400.4:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719463.1:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539847"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3179,
          "referenceAllele": "G",
          "start": 3178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "NM_001145337.3:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138809.1:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677864"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2732,
          "referenceAllele": "G",
          "start": 2731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "NM_001145340.3:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138812.1:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2810,
          "referenceAllele": "G",
          "start": 2809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "NM_001278462.2:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265391.1:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3327,
          "referenceAllele": "G",
          "start": 3326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "NM_001367990.1:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001354919.1:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3572,
          "referenceAllele": "G",
          "start": 3571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006973",
      "geneNCBI_id": 4193,
      "geneSymbol": "MDM2",
      "hgvs": [
        "NM_002392.6:c.*1777G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002383.2:n.*1777G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727276",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258149.11:c.*1777G="
          },
          "RefSeq": {
            "hgvs": "NM_002392.6:c.*1777G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258149.6:n.*1777G="
          },
          "RefSeq": {
            "hgvs": "NP_002383.2:n.*1777G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}