{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2293859810",
  "communityStandardTitle": [
    "NM_001943.5(DSG2):c.1195G= (p.Glu399=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/774863785",
        "rs": 774863785
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 31531167,
          "referenceAllele": "G",
          "start": 31531166
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31531167G=",
        "CM000680.2:g.31531167G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 29111130,
          "referenceAllele": "G",
          "start": 29111129
        }
      ],
      "hgvs": [
        "NC_000018.9:g.29111130G=",
        "CM000680.1:g.29111130G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 27365128,
          "referenceAllele": "G",
          "start": 27365127
        }
      ],
      "hgvs": [
        "NC_000018.8:g.27365128G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37926,
          "referenceAllele": "G",
          "start": 37925
        }
      ],
      "hgvs": [
        "NG_007072.3:g.37926G=",
        "LRG_397:g.37926G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000452"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000683614.2:n.1026G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000683614.1:c.1026G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828586"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1270,
          "referenceAllele": "G",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000261590.13:c.1195G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261590.8:p.Glu399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742166",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261590.13:c.1195G="
          },
          "RefSeq": {
            "hgvs": "NM_001943.5:c.1195G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261590.8:p.Glu399="
          },
          "RefSeq": {
            "hgvs": "NP_001934.2:p.Glu399="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1404,
          "referenceAllele": "G",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000261590.12:c.1195G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261590.8:p.Glu399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085561409",
      "coordinates": [
        {
          "allele": "G",
          "end": 1383,
          "referenceAllele": "G",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.3:c.1195G=",
        "LRG_397t1:c.1195G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Glu399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027270"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085561409",
      "coordinates": [
        {
          "allele": "G",
          "end": 1443,
          "referenceAllele": "G",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.4:c.1195G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Glu399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1169,
          "referenceAllele": "G",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "XM_024451095.1:c.661G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306863.1:p.Glu221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085561409",
      "coordinates": [
        {
          "allele": "G",
          "end": 1270,
          "referenceAllele": "G",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.5:c.1195G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Glu399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665261",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261590.13:c.1195G="
          },
          "RefSeq": {
            "hgvs": "NM_001943.5:c.1195G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261590.8:p.Glu399="
          },
          "RefSeq": {
            "hgvs": "NP_001934.2:p.Glu399="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}