{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350694726",
  "communityStandardTitle": [
    "NM_001927.4(DES):c.1166A>G (p.Gln389Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1773631[alleleid]",
        "alleleId": 1773631,
        "preferredName": "NM_001927.4(DES):c.1166A>G (p.Gln389Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1715686",
        "RCV": [
          "RCV002304608"
        ],
        "variationId": 1715686
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.220286204A>G?assembly=hg19",
        "id": "chr2:g.220286204A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219421482A>G?assembly=hg38",
        "id": "chr2:g.219421482A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913004",
        "rs": 121913004
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219421482-A-G?dataset=gnomad_r4",
        "id": "2-219421482-A-G",
        "variant": "2:219421482 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 219421482,
          "referenceAllele": "A",
          "start": 219421481
        }
      ],
      "hgvs": [
        "NC_000002.12:g.219421482A>G",
        "CM000664.2:g.219421482A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 220286204,
          "referenceAllele": "A",
          "start": 220286203
        }
      ],
      "hgvs": [
        "NC_000002.11:g.220286204A>G",
        "CM000664.1:g.220286204A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 219994448,
          "referenceAllele": "A",
          "start": 219994447
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219994448A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8106,
          "referenceAllele": "A",
          "start": 8105
        }
      ],
      "hgvs": [
        "NG_008043.1:g.8106A>G",
        "LRG_380:g.8106A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000799"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 640,
          "referenceAllele": "A",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000477226.6:n.640A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825277"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 554,
          "referenceAllele": "A",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000683013.1:n.554A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1252,
          "referenceAllele": "A",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.4:c.1166A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:p.Gln389Arg",
        "hgvsWellDefined": "ENSP00000363071.3:p.Gln389Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751346",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.1166A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.1166A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:p.Gln389Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:p.Gln389Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1252,
          "referenceAllele": "A",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.3:c.1166A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:p.Gln389Arg",
        "hgvsWellDefined": "ENSP00000363071.3:p.Gln389Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 638,
          "referenceAllele": "A",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000477226.5:n.638A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318091"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "referenceAllele": "A",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000492726.1:n.561A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580261217",
      "coordinates": [
        {
          "allele": "G",
          "end": 1252,
          "referenceAllele": "A",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.3:c.1166A>G",
        "LRG_380t1:c.1166A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:p.Gln389Arg",
        "hgvsWellDefined": "NP_001918.3:p.Gln389Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580261217",
      "coordinates": [
        {
          "allele": "G",
          "end": 1252,
          "referenceAllele": "A",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.4:c.1166A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:p.Gln389Arg",
        "hgvsWellDefined": "NP_001918.3:p.Gln389Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695404",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.1166A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.1166A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:p.Gln389Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:p.Gln389Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828915214",
      "coordinates": [
        {
          "allele": "G",
          "end": 1249,
          "referenceAllele": "A",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382708.1:c.1163A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369637.1:p.Gln388Arg",
        "hgvsWellDefined": "NP_001369637.1:p.Gln388Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722551"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 821,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 821,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382709.1:c.736-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369638.1:n.736-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828916029",
      "coordinates": [
        {
          "allele": "G",
          "end": 1183,
          "referenceAllele": "A",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382710.1:c.1097A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369639.1:p.Gln366Arg",
        "hgvsWellDefined": "NP_001369639.1:p.Gln366Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828916500",
      "coordinates": [
        {
          "allele": "G",
          "end": 1231,
          "referenceAllele": "A",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382711.1:c.1145A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369640.1:p.Gln382Arg",
        "hgvsWellDefined": "NP_001369640.1:p.Gln382Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828916976",
      "coordinates": [
        {
          "allele": "G",
          "end": 1252,
          "referenceAllele": "A",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382712.1:c.1166A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369641.1:p.Gln389Arg",
        "hgvsWellDefined": "NP_001369641.1:p.Gln389Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828917362",
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "referenceAllele": "A",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382713.1:c.896A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369642.1:p.Gln299Arg",
        "hgvsWellDefined": "NP_001369642.1:p.Gln299Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722556"
    }
  ],
  "type": "nucleotide"
}