{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2293856851",
  "communityStandardTitle": [
    "NM_001943.5(DSG2):c.875G= (p.Arg292=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/185821167",
        "rs": 185821167
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 31524749,
          "referenceAllele": "G",
          "start": 31524748
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31524749G=",
        "CM000680.2:g.31524749G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 29104712,
          "referenceAllele": "G",
          "start": 29104711
        }
      ],
      "hgvs": [
        "NC_000018.9:g.29104712G=",
        "CM000680.1:g.29104712G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 27358710,
          "referenceAllele": "G",
          "start": 27358709
        }
      ],
      "hgvs": [
        "NC_000018.8:g.27358710G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31508,
          "referenceAllele": "G",
          "start": 31507
        }
      ],
      "hgvs": [
        "NG_007072.3:g.31508G=",
        "LRG_397:g.31508G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000452"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000682087.2:n.706G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000683614.2:n.706G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000682087.1:c.706G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000683614.1:c.706G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828586"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000261590.13:c.875G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261590.8:p.Arg292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742166",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261590.13:c.875G="
          },
          "RefSeq": {
            "hgvs": "NM_001943.5:c.875G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261590.8:p.Arg292="
          },
          "RefSeq": {
            "hgvs": "NP_001934.2:p.Arg292="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1084,
          "referenceAllele": "G",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "ENST00000261590.12:c.875G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261590.8:p.Arg292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085457126",
      "coordinates": [
        {
          "allele": "G",
          "end": 1063,
          "referenceAllele": "G",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.3:c.875G=",
        "LRG_397t1:c.875G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Arg292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027270"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085457126",
      "coordinates": [
        {
          "allele": "G",
          "end": 1123,
          "referenceAllele": "G",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.4:c.875G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Arg292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 849,
          "referenceAllele": "G",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "XM_024451095.1:c.341G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306863.1:p.Arg114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085457126",
      "coordinates": [
        {
          "allele": "G",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NM_001943.5:c.875G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001934.2:p.Arg292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665261",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261590.13:c.875G="
          },
          "RefSeq": {
            "hgvs": "NM_001943.5:c.875G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261590.8:p.Arg292="
          },
          "RefSeq": {
            "hgvs": "NP_001934.2:p.Arg292="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}