{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350694040",
  "communityStandardTitle": [
    "NM_001927.4(DES):c.1078G>T (p.Ala360Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1515421[alleleid]",
        "alleleId": 1515421,
        "preferredName": "NM_001927.4(DES):c.1078G>T (p.Ala360Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1517261",
        "RCV": [
          "RCV002027221",
          "RCV002486738",
          "RCV003146490"
        ],
        "variationId": 1517261
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.220286116G>T?assembly=hg19",
        "id": "chr2:g.220286116G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219421394G>T?assembly=hg38",
        "id": "chr2:g.219421394G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913000",
        "rs": 121913000
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219421394-G-T?dataset=gnomad_r4",
        "id": "2-219421394-G-T",
        "variant": "2:219421394 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219421394,
          "referenceAllele": "G",
          "start": 219421393
        }
      ],
      "hgvs": [
        "NC_000002.12:g.219421394G>T",
        "CM000664.2:g.219421394G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 220286116,
          "referenceAllele": "G",
          "start": 220286115
        }
      ],
      "hgvs": [
        "NC_000002.11:g.220286116G>T",
        "CM000664.1:g.220286116G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219994360,
          "referenceAllele": "G",
          "start": 219994359
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219994360G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8018,
          "referenceAllele": "G",
          "start": 8017
        }
      ],
      "hgvs": [
        "NG_008043.1:g.8018G>T",
        "LRG_380:g.8018G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000799"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000477226.6:n.552G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000683013.1:n.466G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.4:c.1078G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:p.Ala360Ser",
        "hgvsWellDefined": "ENSP00000363071.3:p.Ala360Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751346",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.1078G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.1078G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:p.Ala360Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:p.Ala360Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.3:c.1078G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:p.Ala360Ser",
        "hgvsWellDefined": "ENSP00000363071.3:p.Ala360Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000477226.5:n.550G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "referenceAllele": "G",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000492726.1:n.473G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573218243",
      "coordinates": [
        {
          "allele": "T",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.3:c.1078G>T",
        "LRG_380t1:c.1078G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:p.Ala360Ser",
        "hgvsWellDefined": "NP_001918.3:p.Ala360Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573218243",
      "coordinates": [
        {
          "allele": "T",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.4:c.1078G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:p.Ala360Ser",
        "hgvsWellDefined": "NP_001918.3:p.Ala360Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695404",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.1078G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.1078G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:p.Ala360Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:p.Ala360Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828915180",
      "coordinates": [
        {
          "allele": "T",
          "end": 1161,
          "referenceAllele": "G",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382708.1:c.1075G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369637.1:p.Ala359Ser",
        "hgvsWellDefined": "NP_001369637.1:p.Ala359Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 821,
          "endIntronDirection": "-",
          "endIntronOffset": 89,
          "referenceAllele": "G",
          "start": 821,
          "startIntronDirection": "-",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382709.1:c.736-90G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369638.1:n.736-90G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1109,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "G",
          "start": 1109,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382710.1:c.1024-15G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369639.1:n.1024-15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828916465",
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382711.1:c.1057G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369640.1:p.Ala353Ser",
        "hgvsWellDefined": "NP_001369640.1:p.Ala353Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828916942",
      "coordinates": [
        {
          "allele": "T",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382712.1:c.1078G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369641.1:p.Ala360Ser",
        "hgvsWellDefined": "NP_001369641.1:p.Ala360Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828917327",
      "coordinates": [
        {
          "allele": "T",
          "end": 894,
          "referenceAllele": "G",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382713.1:c.808G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369642.1:p.Ala270Ser",
        "hgvsWellDefined": "NP_001369642.1:p.Ala270Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722556"
    }
  ],
  "type": "nucleotide"
}