{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2293654930",
  "communityStandardTitle": [
    "NM_024422.6(DSC2):c.607C= (p.Arg203=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/142331975",
        "rs": 142331975
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 31089462,
          "referenceAllele": "G",
          "start": 31089461
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31089462G=",
        "CM000680.2:g.31089462G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 28669425,
          "referenceAllele": "G",
          "start": 28669424
        }
      ],
      "hgvs": [
        "NC_000018.9:g.28669425G=",
        "CM000680.1:g.28669425G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 26923423,
          "referenceAllele": "G",
          "start": 26923422
        }
      ],
      "hgvs": [
        "NC_000018.8:g.26923423G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17964,
          "referenceAllele": "C",
          "start": 17963
        }
      ],
      "hgvs": [
        "NG_008208.2:g.17964C=",
        "LRG_400:g.17964C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000949"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 606,
          "referenceAllele": "C",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000682357.1:c.178C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507826.1:p.Arg60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000251081.8:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251081.6:p.Arg203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000280904.11:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280904.6:p.Arg203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280904.11:c.607C="
          },
          "RefSeq": {
            "hgvs": "NM_024422.6:c.607C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280904.6:p.Arg203="
          },
          "RefSeq": {
            "hgvs": "NP_077740.1:p.Arg203="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000648081.1:c.178C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497441.1:p.Arg60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 640,
          "referenceAllele": "C",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000251081.6:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251081.6:p.Arg203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1051,
          "referenceAllele": "C",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000280904.10:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280904.6:p.Arg203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247232"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_004949.4:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004940.1:p.Arg203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030082"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085450014",
      "coordinates": [
        {
          "allele": "C",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_024422.4:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "NP_077740.1:p.Arg203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "referenceAllele": "C",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "XM_005258206.3:c.178C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258263.1:p.Arg60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "referenceAllele": "C",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "XM_005258206.4:c.178C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258263.1:p.Arg60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534801"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_004949.5:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004940.1:p.Arg203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085450014",
      "coordinates": [
        {
          "allele": "C",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_024422.6:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "NP_077740.1:p.Arg203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698693",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280904.11:c.607C="
          },
          "RefSeq": {
            "hgvs": "NM_024422.6:c.607C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280904.6:p.Arg203="
          },
          "RefSeq": {
            "hgvs": "NP_077740.1:p.Arg203="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}