{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402139020",
  "communityStandardTitle": [
    "NM_001943.5(DSG2):c.1174G>C (p.Val392Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.29111109G>C?assembly=hg19",
        "id": "chr18:g.29111109G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.31531146G>C?assembly=hg38",
        "id": "chr18:g.31531146G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922639",
        "rs": 193922639
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 31531146,
          "referenceAllele": "G",
          "start": 31531145
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31531146G>C",
        "CM000680.2:g.31531146G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 29111109,
          "referenceAllele": "G",
          "start": 29111108
        }
      ],
      "hgvs": [
        "NC_000018.9:g.29111109G>C",
        "CM000680.1:g.29111109G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 27365107,
          "referenceAllele": "G",
          "start": 27365106
        }
      ],
      "hgvs": [
        "NC_000018.8:g.27365107G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 37905,
          "referenceAllele": "G",
          "start": 37904
        }
      ],
      "hgvs": [
        "NG_007072.3:g.37905G>C",
        "LRG_397:g.37905G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000452"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1005,
          "referenceAllele": "G",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000683614.2:n.1005G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1005,
          "referenceAllele": "G",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000683614.1:c.1005G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828586"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1249,
          "referenceAllele": "G",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000261590.13:c.1174G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261590.8:p.Val392Leu",
        "hgvsWellDefined": "ENSP00000261590.8:p.Val392Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742166",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261590.13:c.1174G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001943.5:c.1174G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261590.8:p.Val392Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001934.2:p.Val392Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1383,
          "referenceAllele": "G",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000261590.12:c.1174G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261590.8:p.Val392Leu",
        "hgvsWellDefined": "ENSP00000261590.8:p.Val392Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085458292",
      "coordinates": [
        {
          "allele": "C",
          "end": 1362,
          "referenceAllele": "G",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.3:c.1174G>C",
        "LRG_397t1:c.1174G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Val392Leu",
        "hgvsWellDefined": "NP_001934.2:p.Val392Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027270"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085458292",
      "coordinates": [
        {
          "allele": "C",
          "end": 1422,
          "referenceAllele": "G",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.4:c.1174G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Val392Leu",
        "hgvsWellDefined": "NP_001934.2:p.Val392Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1148,
          "referenceAllele": "G",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "XM_024451095.1:c.640G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306863.1:p.Val214Leu",
        "hgvsWellDefined": "XP_024306863.1:p.Val214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085458292",
      "coordinates": [
        {
          "allele": "C",
          "end": 1249,
          "referenceAllele": "G",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.5:c.1174G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Val392Leu",
        "hgvsWellDefined": "NP_001934.2:p.Val392Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665261",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261590.13:c.1174G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001943.5:c.1174G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261590.8:p.Val392Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001934.2:p.Val392Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}