{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2125253",
  "communityStandardTitle": [
    "NM_001927.4(DES):c.1180G>A (p.Val394Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274449[alleleid]",
        "alleleId": 274449,
        "preferredName": "NM_001927.4(DES):c.1180G>A (p.Val394Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290212",
        "RCV": [
          "RCV000335144",
          "RCV003352824",
          "RCV001171071",
          "RCV001441657"
        ],
        "variationId": 290212
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-220286218-G-A",
        "id": "2-220286218-G-A",
        "variant": "2:220286218 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.220286218G>A?assembly=hg19",
        "id": "chr2:g.220286218G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219421496G>A?assembly=hg38",
        "id": "chr2:g.219421496G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776786349",
        "rs": 776786349
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-220286218-G-A?dataset=gnomad_r2_1",
        "id": "2-220286218-G-A",
        "variant": "2:220286218 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219421496-G-A?dataset=gnomad_r3",
        "id": "2-219421496-G-A",
        "variant": "2:219421496 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219421496-G-A?dataset=gnomad_r4",
        "id": "2-219421496-G-A",
        "variant": "2:219421496 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 219421496,
          "referenceAllele": "G",
          "start": 219421495
        }
      ],
      "hgvs": [
        "NC_000002.12:g.219421496G>A",
        "CM000664.2:g.219421496G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 220286218,
          "referenceAllele": "G",
          "start": 220286217
        }
      ],
      "hgvs": [
        "NC_000002.11:g.220286218G>A",
        "CM000664.1:g.220286218G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 219994462,
          "referenceAllele": "G",
          "start": 219994461
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219994462G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8120,
          "referenceAllele": "G",
          "start": 8119
        }
      ],
      "hgvs": [
        "NG_008043.1:g.8120G>A",
        "LRG_380:g.8120G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000799"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 654,
          "referenceAllele": "G",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000477226.6:n.654G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 568,
          "referenceAllele": "G",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000683013.1:n.568G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "referenceAllele": "G",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.4:c.1180G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:p.Val394Met",
        "hgvsWellDefined": "ENSP00000363071.3:p.Val394Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751346",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.1180G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.1180G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:p.Val394Met"
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:p.Val394Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "referenceAllele": "G",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.3:c.1180G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:p.Val394Met",
        "hgvsWellDefined": "ENSP00000363071.3:p.Val394Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000477226.5:n.652G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000492726.1:n.575G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645498336",
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "referenceAllele": "G",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.3:c.1180G>A",
        "LRG_380t1:c.1180G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:p.Val394Met",
        "hgvsWellDefined": "NP_001918.3:p.Val394Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645498336",
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "referenceAllele": "G",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.4:c.1180G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:p.Val394Met",
        "hgvsWellDefined": "NP_001918.3:p.Val394Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695404",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.1180G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.1180G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:p.Val394Met"
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:p.Val394Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382708.1:c.1177G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369637.1:p.Val393Met",
        "hgvsWellDefined": "NP_001369637.1:p.Val393Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "G",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382709.1:c.748G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369638.1:p.Val250Met",
        "hgvsWellDefined": "NP_001369638.1:p.Val250Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1197,
          "referenceAllele": "G",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382710.1:c.1111G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369639.1:p.Val371Met",
        "hgvsWellDefined": "NP_001369639.1:p.Val371Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1245,
          "referenceAllele": "G",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382711.1:c.1159G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369640.1:p.Val387Met",
        "hgvsWellDefined": "NP_001369640.1:p.Val387Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "referenceAllele": "G",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382712.1:c.1180G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369641.1:p.Val394Met",
        "hgvsWellDefined": "NP_001369641.1:p.Val394Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 996,
          "referenceAllele": "G",
          "start": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382713.1:c.910G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369642.1:p.Val304Met",
        "hgvsWellDefined": "NP_001369642.1:p.Val304Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722556"
    }
  ],
  "type": "nucleotide"
}