{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1754546",
  "communityStandardTitle": [
    "NM_004836.7(EIF2AK3):c.1947G>A (p.Pro649=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=885640[alleleid]",
        "alleleId": 885640,
        "preferredName": "NM_004836.7(EIF2AK3):c.1947G>A (p.Pro649=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/897011",
        "RCV": [
          "RCV001140037",
          "RCV001412013"
        ],
        "variationId": 897011
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-88876161-C-T",
        "id": "2-88876161-C-T",
        "variant": "2:88876161 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.88876161C>T?assembly=hg19",
        "id": "chr2:g.88876161C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.88576643C>T?assembly=hg38",
        "id": "chr2:g.88576643C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/765544171",
        "rs": 765544171
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-88876161-C-T?dataset=gnomad_r2_1",
        "id": "2-88876161-C-T",
        "variant": "2:88876161 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-88576643-C-T?dataset=gnomad_r3",
        "id": "2-88576643-C-T",
        "variant": "2:88576643 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-88576643-C-T?dataset=gnomad_r4",
        "id": "2-88576643-C-T",
        "variant": "2:88576643 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 88576643,
          "referenceAllele": "C",
          "start": 88576642
        }
      ],
      "hgvs": [
        "NC_000002.12:g.88576643C>T",
        "CM000664.2:g.88576643C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 88876161,
          "referenceAllele": "C",
          "start": 88876160
        }
      ],
      "hgvs": [
        "NC_000002.11:g.88876161C>T",
        "CM000664.1:g.88876161C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 88657276,
          "referenceAllele": "C",
          "start": 88657275
        }
      ],
      "hgvs": [
        "NC_000002.10:g.88657276C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 55934,
          "referenceAllele": "G",
          "start": 55933
        }
      ],
      "hgvs": [
        "NG_016424.1:g.55934G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003178"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000478003.2:n.1775G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1392,
          "referenceAllele": "G",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000682276.1:n.1392G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2525,
          "referenceAllele": "G",
          "start": 2524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000682892.1:c.1494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507214.1:p.Pro498="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1586,
          "referenceAllele": "G",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000682952.1:n.1586G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000684455.1:c.1160G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1344,
          "referenceAllele": "G",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000684642.1:c.1344G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507355.1:p.Pro448="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2125,
          "referenceAllele": "G",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000684740.1:n.2125G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2137,
          "referenceAllele": "G",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000303236.9:c.1947G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307235.3:p.Pro649="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745016",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303236.9:c.1947G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004836.7:c.1947G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307235.3:p.Pro649="
          },
          "RefSeq": {
            "hgvs": "NP_004827.4:p.Pro649="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2141,
          "referenceAllele": "G",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000652099.1:c.2141G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1823,
          "referenceAllele": "G",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000652736.1:n.1823G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2249,
          "referenceAllele": "G",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000303236.7:c.1947G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307235.3:p.Pro649="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1616,
          "referenceAllele": "G",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000415570.1:c.1584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412076.1:p.Pro528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1823,
          "referenceAllele": "G",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000419748.5:c.1494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408325.1:p.Pro498="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000478003.1:n.513G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826947364",
      "coordinates": [
        {
          "allele": "A",
          "end": 1823,
          "referenceAllele": "G",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NM_001313915.1:c.1494G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300844.1:p.Pro498="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829575023",
      "coordinates": [
        {
          "allele": "A",
          "end": 2249,
          "referenceAllele": "G",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NM_004836.5:c.1947G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004827.4:p.Pro649="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029981"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829575023",
      "coordinates": [
        {
          "allele": "A",
          "end": 2249,
          "referenceAllele": "G",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NM_004836.6:c.1947G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004827.4:p.Pro649="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1455,
          "referenceAllele": "G",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "XM_005264649.3:c.1263G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264706.1:p.Pro421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2226,
          "referenceAllele": "G",
          "start": 2225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "XR_939749.1:n.2226G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2141,
          "referenceAllele": "G",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "XM_017005376.2:c.1263G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860865.1:p.Pro421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829575023",
      "coordinates": [
        {
          "allele": "A",
          "end": 2137,
          "referenceAllele": "G",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NM_004836.7:c.1947G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004827.4:p.Pro649="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696252",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303236.9:c.1947G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004836.7:c.1947G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307235.3:p.Pro649="
          },
          "RefSeq": {
            "hgvs": "NP_004827.4:p.Pro649="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826947364",
      "coordinates": [
        {
          "allele": "A",
          "end": 1823,
          "referenceAllele": "G",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NM_001313915.2:c.1494G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300844.1:p.Pro498="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717329"
    }
  ],
  "type": "nucleotide"
}