{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2333965453",
  "communityStandardTitle": [
    "NM_001083961.2(WDR62):c.2030T= (p.Leu677=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863223377",
        "rs": 863223377
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 36090516,
          "referenceAllele": "T",
          "start": 36090515
        }
      ],
      "hgvs": [
        "NC_000019.10:g.36090516T=",
        "CM000681.2:g.36090516T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 36581418,
          "referenceAllele": "T",
          "start": 36581417
        }
      ],
      "hgvs": [
        "NC_000019.9:g.36581418T=",
        "CM000681.1:g.36581418T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 41273258,
          "referenceAllele": "T",
          "start": 41273257
        }
      ],
      "hgvs": [
        "NC_000019.8:g.41273258T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 40636,
          "referenceAllele": "T",
          "start": 40635
        }
      ],
      "hgvs": [
        "NG_028101.1:g.40636T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2030,
          "referenceAllele": "T",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000270301.12:c.2030T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270301.6:p.Leu677="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2105,
          "referenceAllele": "T",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000401500.7:c.2030T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384792.1:p.Leu677="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753966",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000401500.7:c.2030T="
          },
          "RefSeq": {
            "hgvs": "NM_001083961.2:c.2030T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384792.1:p.Leu677="
          },
          "RefSeq": {
            "hgvs": "NP_001077430.1:p.Leu677="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2181,
          "referenceAllele": "T",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000587391.6:c.*720T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465525.1:n.*720T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "referenceAllele": "T",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679489.1:c.348T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2090,
          "referenceAllele": "T",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679682.1:c.2015T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506226.1:p.Leu672="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2099,
          "referenceAllele": "T",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679714.1:c.2024T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506627.1:p.Leu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779341"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1721,
          "referenceAllele": "T",
          "start": 1720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679757.1:c.1679T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505158.1:p.Leu560="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1813,
          "referenceAllele": "T",
          "start": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679858.1:c.*827T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505655.1:n.*827T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13,
          "referenceAllele": "T",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680349.1:n.13T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "T",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680377.1:c.480T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2105,
          "referenceAllele": "T",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680403.1:c.2030T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505677.1:p.Leu677="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2353,
          "referenceAllele": "T",
          "start": 2352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680489.1:n.2353T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780105"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2105,
          "referenceAllele": "T",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680564.1:c.2030T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505582.1:p.Leu677="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2052,
          "referenceAllele": "T",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680590.1:c.*429T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505350.1:n.*429T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2169,
          "referenceAllele": "T",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680806.1:c.*859T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506418.1:n.*859T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 408,
          "endIntronDirection": "+",
          "endIntronOffset": 1210,
          "referenceAllele": "T",
          "start": 408,
          "startIntronDirection": "+",
          "startIntronOffset": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680858.1:c.408+1210T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "T",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000681302.1:c.480T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2025,
          "referenceAllele": "T",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000681625.1:c.2015T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505555.1:p.Leu672="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2030,
          "referenceAllele": "T",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000270301.11:c.2030T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270301.6:p.Leu677="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2065,
          "referenceAllele": "T",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000401500.6:c.2030T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384792.1:p.Leu677="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2181,
          "referenceAllele": "T",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000587391.5:c.*720T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465525.1:n.*720T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2121,
          "referenceAllele": "T",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "NM_001083961.1:c.2030T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001077430.1:p.Leu677="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086511720",
      "coordinates": [
        {
          "allele": "T",
          "end": 2121,
          "referenceAllele": "T",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "NM_173636.4:c.2030T="
      ],
      "proteinEffect": {
        "hgvs": "NP_775907.4:p.Leu677="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2121,
          "referenceAllele": "T",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_005258809.2:c.2030T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258866.1:p.Leu677="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2106,
          "referenceAllele": "T",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526837.1:c.2015T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525139.1:p.Leu672="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2121,
          "referenceAllele": "T",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526838.1:c.2030T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525140.1:p.Leu677="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1770,
          "referenceAllele": "T",
          "start": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526839.1:c.1679T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525141.1:p.Leu560="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "referenceAllele": "T",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526840.1:c.1022T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525142.1:p.Leu341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 731,
          "referenceAllele": "T",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526841.1:c.608T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525143.1:p.Leu203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 569,
          "referenceAllele": "T",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526842.1:c.461T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525144.1:p.Leu154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093941"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72,
          "referenceAllele": "T",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526843.1:c.-48T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525145.1:n.-48T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1116,
          "referenceAllele": "T",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526840.2:c.1022T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525142.1:p.Leu341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 737,
          "referenceAllele": "T",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526841.2:c.608T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525143.1:p.Leu203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2121,
          "referenceAllele": "T",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_017026665.1:c.2030T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016882154.1:p.Leu677="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2121,
          "referenceAllele": "T",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XR_001753671.1:n.2121T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2121,
          "referenceAllele": "T",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XR_001753672.1:n.2121T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2105,
          "referenceAllele": "T",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "NM_001083961.2:c.2030T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001077430.1:p.Leu677="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663340",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000401500.7:c.2030T="
          },
          "RefSeq": {
            "hgvs": "NM_001083961.2:c.2030T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384792.1:p.Leu677="
          },
          "RefSeq": {
            "hgvs": "NP_001077430.1:p.Leu677="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086511720",
      "coordinates": [
        {
          "allele": "T",
          "end": 2105,
          "referenceAllele": "T",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "NM_173636.5:c.2030T="
      ],
      "proteinEffect": {
        "hgvs": "NP_775907.4:p.Leu677="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700622"
    }
  ],
  "type": "nucleotide"
}