{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA022404",
  "communityStandardTitle": [
    "NM_024422.6(DSC2):c.1077+2T>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55326[alleleid]",
        "alleleId": 55326,
        "preferredName": "NM_024422.6(DSC2):c.1077+2T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46161",
        "RCV": [
          "RCV001185737",
          "RCV004017331",
          "RCV003996430"
        ],
        "variationId": 46161
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.28662890A>C?assembly=hg19",
        "id": "chr18:g.28662890A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.31082924A>C?assembly=hg38",
        "id": "chr18:g.31082924A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397517389",
        "rs": 397517389
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 31082924,
          "referenceAllele": "A",
          "start": 31082923
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31082924A>C",
        "CM000680.2:g.31082924A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 28662890,
          "referenceAllele": "A",
          "start": 28662889
        }
      ],
      "hgvs": [
        "NC_000018.9:g.28662890A>C",
        "CM000680.1:g.28662890A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 26916888,
          "referenceAllele": "A",
          "start": 26916887
        }
      ],
      "hgvs": [
        "NC_000018.8:g.26916888A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 24502,
          "referenceAllele": "T",
          "start": 24501
        }
      ],
      "hgvs": [
        "NG_008208.2:g.24502T>G",
        "LRG_400:g.24502T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000949"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1076,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1076,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000682357.1:c.648+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507826.1:n.648+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1527,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1527,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000251081.8:c.1077+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251081.6:n.1077+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1527,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1527,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000280904.11:c.1077+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280904.6:n.1077+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280904.11:c.1077+2T>G"
          },
          "RefSeq": {
            "hgvs": "NM_024422.6:c.1077+2T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280904.6:n.1077+2T>G"
          },
          "RefSeq": {
            "hgvs": "NP_077740.1:n.1077+2T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1132,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1132,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000648081.1:c.648+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497441.1:n.648+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1110,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1110,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000251081.6:c.1077+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251081.6:n.1077+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247187"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1521,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1521,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000280904.10:c.1077+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280904.6:n.1077+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1538,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1538,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_004949.4:c.1077+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004940.1:n.1077+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1538,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1538,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_024422.4:c.1077+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077740.1:n.1077+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1049,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1049,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "XM_005258206.3:c.648+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258263.1:n.648+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061992"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1039,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "XM_005258206.4:c.648+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258263.1:n.648+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1527,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1527,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_004949.5:c.1077+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004940.1:n.1077+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1527,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1527,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_024422.6:c.1077+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077740.1:n.1077+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698693",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280904.11:c.1077+2T>G"
          },
          "RefSeq": {
            "hgvs": "NM_024422.6:c.1077+2T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280904.6:n.1077+2T>G"
          },
          "RefSeq": {
            "hgvs": "NP_077740.1:n.1077+2T>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}