{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1425889612",
  "communityStandardTitle": [
    "NM_003907.3(EIF2B5):c.1882T= (p.Trp628=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28937596",
        "rs": 28937596
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2473672725",
        "rs": 2473672725
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 184144111,
          "referenceAllele": "T",
          "start": 184144110
        }
      ],
      "hgvs": [
        "NC_000003.12:g.184144111T=",
        "CM000665.2:g.184144111T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 183861899,
          "referenceAllele": "T",
          "start": 183861898
        }
      ],
      "hgvs": [
        "NC_000003.11:g.183861899T=",
        "CM000665.1:g.183861899T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 185344593,
          "referenceAllele": "T",
          "start": 185344592
        }
      ],
      "hgvs": [
        "NC_000003.10:g.185344593T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14090,
          "referenceAllele": "T",
          "start": 14089
        }
      ],
      "hgvs": [
        "NG_015826.1:g.14090T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002858"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2204,
          "referenceAllele": "T",
          "start": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000465218.3:n.2204T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2957,
          "referenceAllele": "T",
          "start": 2956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000468748.7:n.2957T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2944,
          "referenceAllele": "T",
          "start": 2943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000484154.2:n.2944T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2646,
          "referenceAllele": "T",
          "start": 2645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000491008.6:n.2646T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2981,
          "referenceAllele": "T",
          "start": 2980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000492226.2:n.2981T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1636,
          "referenceAllele": "T",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000492773.6:c.1636T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1960,
          "referenceAllele": "T",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000647636.1:c.*731T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497505.1:n.*731T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1915,
          "referenceAllele": "T",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000647909.1:c.1906T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498164.1:p.Trp636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1674,
          "referenceAllele": "T",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648145.1:c.1674T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1716,
          "referenceAllele": "T",
          "start": 1715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648189.1:c.1716T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1854,
          "referenceAllele": "T",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648256.1:c.1854T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497356.1:n.1854T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2260,
          "endIntronDirection": "-",
          "endIntronOffset": 16,
          "referenceAllele": "T",
          "start": 2260,
          "startIntronDirection": "-",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648314.1:c.*1288-17T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496920.1:n.*1288-17T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "T",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648599.1:c.*1165T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497159.1:n.*1165T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648630.1:c.2060T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497887.1:n.2060T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648682.1:c.*1021T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498185.1:n.*1021T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770114"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2051,
          "referenceAllele": "T",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648882.1:c.*1708T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497603.1:n.*1708T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1909,
          "referenceAllele": "T",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648890.1:c.*305T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497503.1:n.*305T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1910,
          "referenceAllele": "T",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000648915.2:c.1882T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497160.1:p.Trp628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770256",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648915.2:c.1882T="
          },
          "RefSeq": {
            "hgvs": "NM_003907.3:c.1882T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497160.1:p.Trp628="
          },
          "RefSeq": {
            "hgvs": "NP_003898.2:p.Trp628="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "referenceAllele": "T",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000649545.1:c.1541T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770600"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2291,
          "referenceAllele": "T",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000649688.1:c.*1474T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497097.1:n.*1474T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2480,
          "referenceAllele": "T",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000649814.1:n.2480T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1760,
          "referenceAllele": "T",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000650270.1:c.1760T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2004,
          "referenceAllele": "T",
          "start": 2003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000273783.7:c.1882T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000273783.3:p.Trp628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1892,
          "referenceAllele": "T",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000444495.1:c.1882T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409142.1:p.Trp628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 664,
          "referenceAllele": "T",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000465218.2:n.664T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2808,
          "referenceAllele": "T",
          "start": 2807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000481054.5:n.2808T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2386,
          "referenceAllele": "T",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000491144.5:n.2386T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 58,
          "referenceAllele": "T",
          "start": 57
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000492226.1:n.58T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329651"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068374212",
      "coordinates": [
        {
          "allele": "T",
          "end": 2246,
          "referenceAllele": "T",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "NM_003907.2:c.1882T="
      ],
      "proteinEffect": {
        "hgvs": "NP_003898.2:p.Trp628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1161,
          "referenceAllele": "T",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "XM_011513265.1:c.1132T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011511567.1:p.Trp378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1112,
          "referenceAllele": "T",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "XM_011513266.1:c.1045T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011511568.1:p.Trp349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2849,
          "referenceAllele": "T",
          "start": 2848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "XR_924208.1:n.2849T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068374212",
      "coordinates": [
        {
          "allele": "T",
          "end": 1910,
          "referenceAllele": "T",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "NM_003907.3:c.1882T="
      ],
      "proteinEffect": {
        "hgvs": "NP_003898.2:p.Trp628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525148",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648915.2:c.1882T="
          },
          "RefSeq": {
            "hgvs": "NM_003907.3:c.1882T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497160.1:p.Trp628="
          },
          "RefSeq": {
            "hgvs": "NP_003898.2:p.Trp628="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1957,
          "referenceAllele": "T",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "XM_011513266.3:c.1045T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011511568.1:p.Trp349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2256,
          "referenceAllele": "T",
          "start": 2255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "XR_001740352.2:n.2256T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2272,
          "referenceAllele": "T",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "XR_001740353.2:n.2272T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2261,
          "referenceAllele": "T",
          "start": 2260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "XR_924208.2:n.2261T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607645"
    }
  ],
  "type": "nucleotide"
}