{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351491",
  "communityStandardTitle": [
    "NM_004836.7(EIF2AK3):c.2985+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20915[alleleid]",
        "alleleId": 20915,
        "preferredName": "NM_004836.7(EIF2AK3):c.2985+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5876",
        "RCV": [
          "RCV000006234"
        ],
        "variationId": 5876
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.88870391C>T?assembly=hg19",
        "id": "chr2:g.88870391C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.88570873C>T?assembly=hg38",
        "id": "chr2:g.88570873C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/869025179",
        "rs": 869025179
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 88570873,
          "referenceAllele": "C",
          "start": 88570872
        }
      ],
      "hgvs": [
        "NC_000002.12:g.88570873C>T",
        "CM000664.2:g.88570873C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 88870391,
          "referenceAllele": "C",
          "start": 88870390
        }
      ],
      "hgvs": [
        "NC_000002.11:g.88870391C>T",
        "CM000664.1:g.88870391C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 88651506,
          "referenceAllele": "C",
          "start": 88651505
        }
      ],
      "hgvs": [
        "NC_000002.10:g.88651506C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 61704,
          "referenceAllele": "G",
          "start": 61703
        }
      ],
      "hgvs": [
        "NG_016424.1:g.61704G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003178"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2814,
          "referenceAllele": "G",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000478003.2:n.2814G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 526,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 526,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000682103.1:c.526+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2430,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2430,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000682276.1:n.2430+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 523,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 523,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000682468.1:n.523+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 217,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000682603.1:c.217+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 41,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000682844.1:c.41+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3563,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3563,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000682892.1:c.2532+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507214.1:n.2532+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2624,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2624,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000682952.1:n.2624+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2198,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2198,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000684455.1:c.2198+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2214,
          "endIntronDirection": "+",
          "endIntronOffset": 3793,
          "referenceAllele": "G",
          "start": 2214,
          "startIntronDirection": "+",
          "startIntronOffset": 3792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000684642.1:c.2214+3793G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507355.1:n.2214+3793G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3163,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3163,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000684740.1:n.3163+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3175,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3175,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000303236.9:c.2985+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307235.3:n.2985+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745016",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303236.9:c.2985+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004836.7:c.2985+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307235.3:n.2985+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004827.4:n.2985+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3179,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3179,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000652099.1:c.3179+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2861,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000652736.1:n.2861+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3287,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3287,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000303236.7:c.2985+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307235.3:n.2985+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2654,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2654,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000415570.1:c.2622+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412076.1:n.2622+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2861,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "ENST00000419748.5:c.2532+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408325.1:n.2532+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2861,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NM_001313915.1:c.2532+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300844.1:n.2532+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3287,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3287,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NM_004836.5:c.2985+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004827.4:n.2985+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3287,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3287,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NM_004836.6:c.2985+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004827.4:n.2985+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 650,
          "endIntronDirection": "-",
          "endIntronOffset": 3640,
          "referenceAllele": "C",
          "start": 650,
          "startIntronDirection": "-",
          "startIntronOffset": 3641
        }
      ],
      "hgvs": [
        "NR_110236.1:n.651-3641C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2493,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2493,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "XM_005264649.3:c.2301+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264706.1:n.2301+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3179,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3179,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "XM_017005376.2:c.2301+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860865.1:n.2301+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3175,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3175,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NM_004836.7:c.2985+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004827.4:n.2985+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696252",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303236.9:c.2985+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004836.7:c.2985+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307235.3:n.2985+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004827.4:n.2985+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2861,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NM_001313915.2:c.2532+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300844.1:n.2532+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717329"
    }
  ],
  "type": "nucleotide"
}