{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA022624",
  "communityStandardTitle": [
    "NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44669[alleleid]",
        "alleleId": 44669,
        "preferredName": "NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36005",
        "RCV": [
          "RCV000029663",
          "RCV000039419",
          "RCV000157173",
          "RCV000148468",
          "RCV000233024",
          "RCV000776181",
          "RCV000617398",
          "RCV001080880",
          "RCV003944841"
        ],
        "variationId": 36005
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-28650748-A-C",
        "id": "18-28650748-A-C",
        "variant": "18:28650748 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.28650748A>C?assembly=hg19",
        "id": "chr18:g.28650748A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.31070782A>C?assembly=hg38",
        "id": "chr18:g.31070782A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151024019",
        "rs": 151024019
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-28650748-A-C?dataset=gnomad_r2_1",
        "id": "18-28650748-A-C",
        "variant": "18:28650748 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-31070782-A-C?dataset=gnomad_r3",
        "id": "18-31070782-A-C",
        "variant": "18:31070782 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-31070782-A-C?dataset=gnomad_r4",
        "id": "18-31070782-A-C",
        "variant": "18:31070782 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 31070782,
          "referenceAllele": "A",
          "start": 31070781
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31070782A>C",
        "CM000680.2:g.31070782A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 28650748,
          "referenceAllele": "A",
          "start": 28650747
        }
      ],
      "hgvs": [
        "NC_000018.9:g.28650748A>C",
        "CM000680.1:g.28650748A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 26904746,
          "referenceAllele": "A",
          "start": 26904745
        }
      ],
      "hgvs": [
        "NC_000018.8:g.26904746A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36644,
          "referenceAllele": "T",
          "start": 36643
        }
      ],
      "hgvs": [
        "NG_008208.2:g.36644T>G",
        "LRG_400:g.36644T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000949"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2193,
          "referenceAllele": "T",
          "start": 2192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000682357.1:c.1765T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507826.1:p.Leu589Val",
        "hgvsWellDefined": "ENSP00000507826.1:p.Leu589Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2644,
          "referenceAllele": "T",
          "start": 2643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000251081.8:c.2194T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251081.6:p.Leu732Val",
        "hgvsWellDefined": "ENSP00000251081.6:p.Leu732Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2644,
          "referenceAllele": "T",
          "start": 2643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000280904.11:c.2194T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280904.6:p.Leu732Val",
        "hgvsWellDefined": "ENSP00000280904.6:p.Leu732Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280904.11:c.2194T>G"
          },
          "RefSeq": {
            "hgvs": "NM_024422.6:c.2194T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280904.6:p.Leu732Val"
          },
          "RefSeq": {
            "hgvs": "NP_077740.1:p.Leu732Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2249,
          "referenceAllele": "T",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000648081.1:c.1765T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497441.1:p.Leu589Val",
        "hgvsWellDefined": "ENSP00000497441.1:p.Leu589Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2227,
          "referenceAllele": "T",
          "start": 2226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000251081.6:c.2194T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251081.6:p.Leu732Val",
        "hgvsWellDefined": "ENSP00000251081.6:p.Leu732Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247187"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2638,
          "referenceAllele": "T",
          "start": 2637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000280904.10:c.2194T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280904.6:p.Leu732Val",
        "hgvsWellDefined": "ENSP00000280904.6:p.Leu732Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247232"
    },
    {
      "@id": "http://reg.genome.network/allele/PA137809",
      "coordinates": [
        {
          "allele": "G",
          "end": 2655,
          "referenceAllele": "T",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_004949.4:c.2194T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004940.1:p.Leu732Val",
        "hgvsWellDefined": "NP_004940.1:p.Leu732Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030082"
    },
    {
      "@id": "http://reg.genome.network/allele/PA137810",
      "coordinates": [
        {
          "allele": "G",
          "end": 2655,
          "referenceAllele": "T",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_024422.4:c.2194T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077740.1:p.Leu732Val",
        "hgvsWellDefined": "NP_077740.1:p.Leu732Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2166,
          "referenceAllele": "T",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "XM_005258206.3:c.1765T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258263.1:p.Leu589Val",
        "hgvsWellDefined": "XP_005258263.1:p.Leu589Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061992"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2156,
          "referenceAllele": "T",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "XM_005258206.4:c.1765T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258263.1:p.Leu589Val",
        "hgvsWellDefined": "XP_005258263.1:p.Leu589Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534801"
    },
    {
      "@id": "http://reg.genome.network/allele/PA137809",
      "coordinates": [
        {
          "allele": "G",
          "end": 2644,
          "referenceAllele": "T",
          "start": 2643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_004949.5:c.2194T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004940.1:p.Leu732Val",
        "hgvsWellDefined": "NP_004940.1:p.Leu732Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA137810",
      "coordinates": [
        {
          "allele": "G",
          "end": 2644,
          "referenceAllele": "T",
          "start": 2643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_024422.6:c.2194T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077740.1:p.Leu732Val",
        "hgvsWellDefined": "NP_077740.1:p.Leu732Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698693",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280904.11:c.2194T>G"
          },
          "RefSeq": {
            "hgvs": "NM_024422.6:c.2194T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280904.6:p.Leu732Val"
          },
          "RefSeq": {
            "hgvs": "NP_077740.1:p.Leu732Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}