{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350689607",
  "communityStandardTitle": [
    "NM_001927.4(DES):c.579-2A>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3110984[alleleid]",
        "alleleId": 3110984,
        "preferredName": "NM_001927.4(DES):c.579-2A>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2948714",
        "RCV": [
          "RCV003809488"
        ],
        "variationId": 2948714
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.220284815A>C?assembly=hg19",
        "id": "chr2:g.220284815A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219420093A>C?assembly=hg38",
        "id": "chr2:g.219420093A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2545250765",
        "rs": 2545250765
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 219420093,
          "referenceAllele": "A",
          "start": 219420092
        }
      ],
      "hgvs": [
        "NC_000002.12:g.219420093A>C",
        "CM000664.2:g.219420093A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 220284815,
          "referenceAllele": "A",
          "start": 220284814
        }
      ],
      "hgvs": [
        "NC_000002.11:g.220284815A>C",
        "CM000664.1:g.220284815A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 219993059,
          "referenceAllele": "A",
          "start": 219993058
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219993059A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6717,
          "referenceAllele": "A",
          "start": 6716
        }
      ],
      "hgvs": [
        "NG_008043.1:g.6717A>C",
        "LRG_380:g.6717A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000799"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 51,
          "referenceAllele": "A",
          "start": 50
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000477226.6:n.51A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825277"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.4:c.579-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:n.579-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751346",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.579-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.579-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:n.579-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:n.579-2A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.3:c.579-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:n.579-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 49,
          "referenceAllele": "A",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000477226.5:n.49A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.3:c.579-2A>C",
        "LRG_380t1:c.579-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:n.579-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.4:c.579-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:n.579-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695404",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.579-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.579-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:n.579-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:n.579-2A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382708.1:c.579-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369637.1:n.579-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722551"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382709.1:c.579-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369638.1:n.579-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382710.1:c.579-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369639.1:n.579-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382711.1:c.579-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369640.1:n.579-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382712.1:c.579-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369641.1:n.579-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 581,
          "endIntronDirection": "-",
          "endIntronOffset": 431,
          "referenceAllele": "A",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382713.1:c.496-432A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369642.1:n.496-432A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722556"
    }
  ],
  "type": "nucleotide"
}