{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA021409",
  "communityStandardTitle": [
    "NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197983[alleleid]",
        "alleleId": 197983,
        "preferredName": "NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199808",
        "RCV": [
          "RCV003996616",
          "RCV001379311",
          "RCV002390449",
          "RCV003486735"
        ],
        "variationId": 199808
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-29116222-A-C",
        "id": "18-29116222-A-C",
        "variant": "18:29116222 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.29116222A>C?assembly=hg19",
        "id": "chr18:g.29116222A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.31536259A>C?assembly=hg38",
        "id": "chr18:g.31536259A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193298428",
        "rs": 193298428
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-29116222-A-C?dataset=gnomad_r2_1",
        "id": "18-29116222-A-C",
        "variant": "18:29116222 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-31536259-A-C?dataset=gnomad_r3",
        "id": "18-31536259-A-C",
        "variant": "18:31536259 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-31536259-A-C?dataset=gnomad_r4",
        "id": "18-31536259-A-C",
        "variant": "18:31536259 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 31536259,
          "referenceAllele": "A",
          "start": 31536258
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31536259A>C",
        "CM000680.2:g.31536259A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 29116222,
          "referenceAllele": "A",
          "start": 29116221
        }
      ],
      "hgvs": [
        "NC_000018.9:g.29116222A>C",
        "CM000680.1:g.29116222A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 27370220,
          "referenceAllele": "A",
          "start": 27370219
        }
      ],
      "hgvs": [
        "NC_000018.8:g.27370220A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43018,
          "referenceAllele": "A",
          "start": 43017
        }
      ],
      "hgvs": [
        "NG_007072.3:g.43018A>C",
        "LRG_397:g.43018A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000452"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1556,
          "referenceAllele": "A",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000261590.13:c.1481A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261590.8:p.Asp494Ala",
        "hgvsWellDefined": "ENSP00000261590.8:p.Asp494Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742166",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261590.13:c.1481A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001943.5:c.1481A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261590.8:p.Asp494Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001934.2:p.Asp494Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1690,
          "referenceAllele": "A",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000261590.12:c.1481A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261590.8:p.Asp494Ala",
        "hgvsWellDefined": "ENSP00000261590.8:p.Asp494Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA334960",
      "coordinates": [
        {
          "allele": "C",
          "end": 1669,
          "referenceAllele": "A",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.3:c.1481A>C",
        "LRG_397t1:c.1481A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Asp494Ala",
        "hgvsWellDefined": "NP_001934.2:p.Asp494Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027270"
    },
    {
      "@id": "http://reg.genome.network/allele/PA334960",
      "coordinates": [
        {
          "allele": "C",
          "end": 1729,
          "referenceAllele": "A",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.4:c.1481A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Asp494Ala",
        "hgvsWellDefined": "NP_001934.2:p.Asp494Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1455,
          "referenceAllele": "A",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "XM_024451095.1:c.947A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306863.1:p.Asp316Ala",
        "hgvsWellDefined": "XP_024306863.1:p.Asp316Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA334960",
      "coordinates": [
        {
          "allele": "C",
          "end": 1556,
          "referenceAllele": "A",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.5:c.1481A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Asp494Ala",
        "hgvsWellDefined": "NP_001934.2:p.Asp494Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665261",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261590.13:c.1481A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001943.5:c.1481A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261590.8:p.Asp494Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001934.2:p.Asp494Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}