{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2125232",
  "communityStandardTitle": [
    "NM_001927.4(DES):c.1055T>C (p.Leu352Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=922589[alleleid]",
        "alleleId": 922589,
        "preferredName": "NM_001927.4(DES):c.1055T>C (p.Leu352Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/947073",
        "RCV": [
          "RCV001218064"
        ],
        "variationId": 947073
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-220286093-T-C",
        "id": "2-220286093-T-C",
        "variant": "2:220286093 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.220286093T>C?assembly=hg19",
        "id": "chr2:g.220286093T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219421371T>C?assembly=hg38",
        "id": "chr2:g.219421371T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/775085773",
        "rs": 775085773
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-220286093-T-C?dataset=gnomad_r2_1",
        "id": "2-220286093-T-C",
        "variant": "2:220286093 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219421371-T-C?dataset=gnomad_r4",
        "id": "2-219421371-T-C",
        "variant": "2:219421371 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 219421371,
          "referenceAllele": "T",
          "start": 219421370
        }
      ],
      "hgvs": [
        "NC_000002.12:g.219421371T>C",
        "CM000664.2:g.219421371T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 220286093,
          "referenceAllele": "T",
          "start": 220286092
        }
      ],
      "hgvs": [
        "NC_000002.11:g.220286093T>C",
        "CM000664.1:g.220286093T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 219994337,
          "referenceAllele": "T",
          "start": 219994336
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219994337T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7995,
          "referenceAllele": "T",
          "start": 7994
        }
      ],
      "hgvs": [
        "NG_008043.1:g.7995T>C",
        "LRG_380:g.7995T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000799"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 529,
          "referenceAllele": "T",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000477226.6:n.529T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825277"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "referenceAllele": "T",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000683013.1:n.443T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "referenceAllele": "T",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.4:c.1055T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:p.Leu352Ser",
        "hgvsWellDefined": "ENSP00000363071.3:p.Leu352Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751346",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.1055T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.1055T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:p.Leu352Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:p.Leu352Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "referenceAllele": "T",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.3:c.1055T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:p.Leu352Ser",
        "hgvsWellDefined": "ENSP00000363071.3:p.Leu352Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "referenceAllele": "T",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000477226.5:n.527T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "referenceAllele": "T",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000492726.1:n.450T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139719568",
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "referenceAllele": "T",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.3:c.1055T>C",
        "LRG_380t1:c.1055T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:p.Leu352Ser",
        "hgvsWellDefined": "NP_001918.3:p.Leu352Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139719568",
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "referenceAllele": "T",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.4:c.1055T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:p.Leu352Ser",
        "hgvsWellDefined": "NP_001918.3:p.Leu352Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695404",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.1055T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.1055T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:p.Leu352Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:p.Leu352Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828915175",
      "coordinates": [
        {
          "allele": "C",
          "end": 1138,
          "referenceAllele": "T",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382708.1:c.1052T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369637.1:p.Leu351Ser",
        "hgvsWellDefined": "NP_001369637.1:p.Leu351Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722551"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 821,
          "endIntronDirection": "-",
          "endIntronOffset": 112,
          "referenceAllele": "T",
          "start": 821,
          "startIntronDirection": "-",
          "startIntronOffset": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382709.1:c.736-113T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369638.1:n.736-113T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1109,
          "endIntronDirection": "-",
          "endIntronOffset": 37,
          "referenceAllele": "T",
          "start": 1109,
          "startIntronDirection": "-",
          "startIntronOffset": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382710.1:c.1024-38T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369639.1:n.1024-38T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828916461",
      "coordinates": [
        {
          "allele": "C",
          "end": 1120,
          "referenceAllele": "T",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382711.1:c.1034T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369640.1:p.Leu345Ser",
        "hgvsWellDefined": "NP_001369640.1:p.Leu345Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828916937",
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "referenceAllele": "T",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382712.1:c.1055T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369641.1:p.Leu352Ser",
        "hgvsWellDefined": "NP_001369641.1:p.Leu352Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828917323",
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "referenceAllele": "T",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382713.1:c.785T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369642.1:p.Leu262Ser",
        "hgvsWellDefined": "NP_001369642.1:p.Leu262Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722556"
    }
  ],
  "type": "nucleotide"
}