{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2293651887",
  "communityStandardTitle": [
    "NM_024422.6(DSC2):c.1123C= (p.Arg375=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794728075",
        "rs": 794728075
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 31082378,
          "referenceAllele": "G",
          "start": 31082377
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31082378G=",
        "CM000680.2:g.31082378G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 28662344,
          "referenceAllele": "G",
          "start": 28662343
        }
      ],
      "hgvs": [
        "NC_000018.9:g.28662344G=",
        "CM000680.1:g.28662344G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 26916342,
          "referenceAllele": "G",
          "start": 26916341
        }
      ],
      "hgvs": [
        "NC_000018.8:g.26916342G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 25048,
          "referenceAllele": "C",
          "start": 25047
        }
      ],
      "hgvs": [
        "NG_008208.2:g.25048C=",
        "LRG_400:g.25048C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000949"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000682357.1:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507826.1:p.Arg232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000251081.8:c.1123C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251081.6:p.Arg375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000280904.11:c.1123C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280904.6:p.Arg375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280904.11:c.1123C="
          },
          "RefSeq": {
            "hgvs": "NM_024422.6:c.1123C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280904.6:p.Arg375="
          },
          "RefSeq": {
            "hgvs": "NP_077740.1:p.Arg375="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1178,
          "referenceAllele": "C",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000648081.1:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497441.1:p.Arg232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000251081.6:c.1123C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251081.6:p.Arg375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1567,
          "referenceAllele": "C",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000280904.10:c.1123C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280904.6:p.Arg375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247232"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829552949",
      "coordinates": [
        {
          "allele": "C",
          "end": 1584,
          "referenceAllele": "C",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_004949.4:c.1123C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004940.1:p.Arg375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030082"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829997688",
      "coordinates": [
        {
          "allele": "C",
          "end": 1584,
          "referenceAllele": "C",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_024422.4:c.1123C="
      ],
      "proteinEffect": {
        "hgvs": "NP_077740.1:p.Arg375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1095,
          "referenceAllele": "C",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "XM_005258206.3:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258263.1:p.Arg232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "XM_005258206.4:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258263.1:p.Arg232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534801"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829552949",
      "coordinates": [
        {
          "allele": "C",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_004949.5:c.1123C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004940.1:p.Arg375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829997688",
      "coordinates": [
        {
          "allele": "C",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_024422.6:c.1123C="
      ],
      "proteinEffect": {
        "hgvs": "NP_077740.1:p.Arg375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698693",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280904.11:c.1123C="
          },
          "RefSeq": {
            "hgvs": "NM_024422.6:c.1123C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280904.6:p.Arg375="
          },
          "RefSeq": {
            "hgvs": "NP_077740.1:p.Arg375="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}