{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1754556",
  "communityStandardTitle": [
    "NM_004836.7(EIF2AK3):c.1897C>T (p.Arg633Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1409912",
        "active": true,
        "id": "COSM1409912"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1409913",
        "active": true,
        "id": "COSM1409913"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1925341[alleleid]",
        "alleleId": 1925341,
        "preferredName": "NM_004836.7(EIF2AK3):c.1897C>T (p.Arg633Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2203113",
        "RCV": [
          "RCV003479486",
          "RCV002664247"
        ],
        "variationId": 2203113
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-88876211-G-A",
        "id": "2-88876211-G-A",
        "variant": "2:88876211 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.88876211G>A?assembly=hg19",
        "id": "chr2:g.88876211G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.88576693G>A?assembly=hg38",
        "id": "chr2:g.88576693G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748318874",
        "rs": 748318874
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-88876211-G-A?dataset=gnomad_r2_1",
        "id": "2-88876211-G-A",
        "variant": "2:88876211 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-88576693-G-A?dataset=gnomad_r3",
        "id": "2-88576693-G-A",
        "variant": "2:88576693 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-88576693-G-A?dataset=gnomad_r4",
        "id": "2-88576693-G-A",
        "variant": "2:88576693 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 88576693,
          "referenceAllele": "G",
          "start": 88576692
        }
      ],
      "hgvs": [
        "NC_000002.12:g.88576693G>A",
        "CM000664.2:g.88576693G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 88876211,
          "referenceAllele": "G",
          "start": 88876210
        }
      ],
      "hgvs": [
        "NC_000002.11:g.88876211G>A",
        "CM000664.1:g.88876211G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 88657326,
          "referenceAllele": "G",
          "start": 88657325
        }
      ],
      "hgvs": [
        "NC_000002.10:g.88657326G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 55884,
          "referenceAllele": "C",
          "start": 55883
        }
      ],
      "hgvs": [
        "NG_016424.1:g.55884C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003178"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1725,
          "referenceAllele": "C",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000478003.2:n.1725C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000682276.1:n.1342C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2475,
          "referenceAllele": "C",
          "start": 2474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000682892.1:c.1444C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507214.1:p.Arg482Trp",
        "hgvsWellDefined": "ENSP00000507214.1:p.Arg482Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1536,
          "referenceAllele": "C",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000682952.1:n.1536C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "referenceAllele": "C",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000684455.1:c.1110C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000684642.1:c.1294C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507355.1:p.Arg432Trp",
        "hgvsWellDefined": "ENSP00000507355.1:p.Arg432Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2075,
          "referenceAllele": "C",
          "start": 2074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000684740.1:n.2075C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2087,
          "referenceAllele": "C",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000303236.9:c.1897C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307235.3:p.Arg633Trp",
        "hgvsWellDefined": "ENSP00000307235.3:p.Arg633Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745016",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303236.9:c.1897C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004836.7:c.1897C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307235.3:p.Arg633Trp"
          },
          "RefSeq": {
            "hgvs": "NP_004827.4:p.Arg633Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2091,
          "referenceAllele": "C",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000652099.1:c.2091C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772025"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1773,
          "referenceAllele": "C",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000652736.1:n.1773C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2199,
          "referenceAllele": "C",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000303236.7:c.1897C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307235.3:p.Arg633Trp",
        "hgvsWellDefined": "ENSP00000307235.3:p.Arg633Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1566,
          "referenceAllele": "C",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000415570.1:c.1534C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412076.1:p.Arg512Trp",
        "hgvsWellDefined": "ENSP00000412076.1:p.Arg512Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1773,
          "referenceAllele": "C",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000419748.5:c.1444C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408325.1:p.Arg482Trp",
        "hgvsWellDefined": "ENSP00000408325.1:p.Arg482Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000478003.1:n.463C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826947356",
      "coordinates": [
        {
          "allele": "T",
          "end": 1773,
          "referenceAllele": "C",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NM_001313915.1:c.1444C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300844.1:p.Arg482Trp",
        "hgvsWellDefined": "NP_001300844.1:p.Arg482Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580312317",
      "coordinates": [
        {
          "allele": "T",
          "end": 2199,
          "referenceAllele": "C",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NM_004836.5:c.1897C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004827.4:p.Arg633Trp",
        "hgvsWellDefined": "NP_004827.4:p.Arg633Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029981"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580312317",
      "coordinates": [
        {
          "allele": "T",
          "end": 2199,
          "referenceAllele": "C",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NM_004836.6:c.1897C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004827.4:p.Arg633Trp",
        "hgvsWellDefined": "NP_004827.4:p.Arg633Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1405,
          "referenceAllele": "C",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "XM_005264649.3:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264706.1:p.Arg405Trp",
        "hgvsWellDefined": "XP_005264706.1:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2176,
          "referenceAllele": "C",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "XR_939749.1:n.2176C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2091,
          "referenceAllele": "C",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "XM_017005376.2:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860865.1:p.Arg405Trp",
        "hgvsWellDefined": "XP_016860865.1:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580312317",
      "coordinates": [
        {
          "allele": "T",
          "end": 2087,
          "referenceAllele": "C",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NM_004836.7:c.1897C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004827.4:p.Arg633Trp",
        "hgvsWellDefined": "NP_004827.4:p.Arg633Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696252",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303236.9:c.1897C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004836.7:c.1897C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307235.3:p.Arg633Trp"
          },
          "RefSeq": {
            "hgvs": "NP_004827.4:p.Arg633Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826947356",
      "coordinates": [
        {
          "allele": "T",
          "end": 1773,
          "referenceAllele": "C",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NM_001313915.2:c.1444C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300844.1:p.Arg482Trp",
        "hgvsWellDefined": "NP_001300844.1:p.Arg482Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717329"
    }
  ],
  "type": "nucleotide"
}