{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA116653",
  "communityStandardTitle": [
    "NM_001034116.2(EIF2B4):c.1465T>C (p.Tyr489His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19161[alleleid]",
        "alleleId": 19161,
        "preferredName": "NM_001034116.2(EIF2B4):c.1465T>C (p.Tyr489His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4122",
        "RCV": [
          "RCV003221398"
        ],
        "variationId": 4122
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-27587374-A-G",
        "id": "2-27587374-A-G",
        "variant": "2:27587374 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.27587374A>G?assembly=hg19",
        "id": "chr2:g.27587374A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.27364507A>G?assembly=hg38",
        "id": "chr2:g.27364507A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113994040",
        "rs": 113994040
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27587374-A-G?dataset=gnomad_r2_1",
        "id": "2-27587374-A-G",
        "variant": "2:27587374 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27364507-A-G?dataset=gnomad_r3",
        "id": "2-27364507-A-G",
        "variant": "2:27364507 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27364507-A-G?dataset=gnomad_r4",
        "id": "2-27364507-A-G",
        "variant": "2:27364507 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 27364507,
          "referenceAllele": "A",
          "start": 27364506
        }
      ],
      "hgvs": [
        "NC_000002.12:g.27364507A>G",
        "CM000664.2:g.27364507A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 27587374,
          "referenceAllele": "A",
          "start": 27587373
        }
      ],
      "hgvs": [
        "NC_000002.11:g.27587374A>G",
        "CM000664.1:g.27587374A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 27440878,
          "referenceAllele": "A",
          "start": 27440877
        }
      ],
      "hgvs": [
        "NC_000002.10:g.27440878A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10951,
          "referenceAllele": "T",
          "start": 10950
        }
      ],
      "hgvs": [
        "NG_009305.1:g.10951T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001560"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1489,
          "referenceAllele": "T",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000347454.9:c.1465T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233552.6:p.Tyr489His",
        "hgvsWellDefined": "ENSP00000233552.6:p.Tyr489His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748337",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347454.9:c.1465T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001034116.2:c.1465T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233552.6:p.Tyr489His"
          },
          "RefSeq": {
            "hgvs": "NP_001029288.1:p.Tyr489His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1637,
          "referenceAllele": "T",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000347454.8:c.1465T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233552.5:p.Tyr489His",
        "hgvsWellDefined": "ENSP00000233552.5:p.Tyr489His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1440,
          "referenceAllele": "T",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000405940.6:c.*731T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384375.2:n.*731T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1482,
          "referenceAllele": "T",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000445933.6:c.1462T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394397.2:p.Tyr488His",
        "hgvsWellDefined": "ENSP00000394397.2:p.Tyr488His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298510"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1525,
          "referenceAllele": "T",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000451130.6:c.1525T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394869.2:p.Tyr509His",
        "hgvsWellDefined": "ENSP00000394869.2:p.Tyr509His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 458,
          "referenceAllele": "T",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000478311.1:n.458T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1841,
          "referenceAllele": "T",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000493344.6:c.1528T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429323.1:p.Tyr510His",
        "hgvsWellDefined": "ENSP00000429323.1:p.Tyr510His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1599,
          "referenceAllele": "T",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000616081.4:c.1456T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477710.1:p.Tyr486His",
        "hgvsWellDefined": "ENSP00000477710.1:p.Tyr486His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402906"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1627,
          "referenceAllele": "T",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000622434.4:c.*731T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479991.1:n.*731T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093417",
      "coordinates": [
        {
          "allele": "C",
          "end": 1608,
          "referenceAllele": "T",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001034116.1:c.1465T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029288.1:p.Tyr489His",
        "hgvsWellDefined": "NP_001029288.1:p.Tyr489His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829837447",
      "coordinates": [
        {
          "allele": "C",
          "end": 1605,
          "referenceAllele": "T",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_015636.3:c.1462T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056451.3:p.Tyr488His",
        "hgvsWellDefined": "NP_056451.3:p.Tyr488His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830348574",
      "coordinates": [
        {
          "allele": "C",
          "end": 1564,
          "referenceAllele": "T",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_172195.3:c.1525T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_751945.2:p.Tyr509His",
        "hgvsWellDefined": "NP_751945.2:p.Tyr509His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1629,
          "referenceAllele": "T",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "XM_005264632.1:c.1420T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264689.1:p.Tyr474His",
        "hgvsWellDefined": "XP_005264689.1:p.Tyr474His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1655,
          "referenceAllele": "T",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "XM_006712132.1:c.1417T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712195.1:p.Tyr473His",
        "hgvsWellDefined": "XP_006712195.1:p.Tyr473His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1394,
          "referenceAllele": "T",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "XM_011533147.1:c.847T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531449.1:p.Tyr283His",
        "hgvsWellDefined": "XP_011531449.1:p.Tyr283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1771,
          "endIntronDirection": "-",
          "endIntronOffset": 2916,
          "referenceAllele": "A",
          "start": 1771,
          "startIntronDirection": "-",
          "startIntronOffset": 2917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055699",
      "geneNCBI_id": 105374363,
      "geneSymbol": "GTF3C2-AS2",
      "hgvs": [
        "XR_939868.1:n.1772-2917A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024138",
      "coordinates": [
        {
          "allele": "C",
          "end": 1567,
          "referenceAllele": "T",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318965.1:c.1528T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305894.1:p.Tyr510His",
        "hgvsWellDefined": "NP_001305894.1:p.Tyr510His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827026004",
      "coordinates": [
        {
          "allele": "C",
          "end": 1658,
          "referenceAllele": "T",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318966.1:c.1420T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305895.1:p.Tyr474His",
        "hgvsWellDefined": "NP_001305895.1:p.Tyr474His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827026234",
      "coordinates": [
        {
          "allele": "C",
          "end": 1601,
          "referenceAllele": "T",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318967.1:c.1372T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305896.1:p.Tyr458His",
        "hgvsWellDefined": "NP_001305896.1:p.Tyr458His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827026369",
      "coordinates": [
        {
          "allele": "C",
          "end": 1497,
          "referenceAllele": "T",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318968.1:c.880T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305897.1:p.Tyr294His",
        "hgvsWellDefined": "NP_001305897.1:p.Tyr294His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827026511",
      "coordinates": [
        {
          "allele": "C",
          "end": 1582,
          "referenceAllele": "T",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318969.1:c.847T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305898.1:p.Tyr283His",
        "hgvsWellDefined": "NP_001305898.1:p.Tyr283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1463,
          "referenceAllele": "T",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "XM_011533147.2:c.847T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531449.1:p.Tyr283His",
        "hgvsWellDefined": "XP_011531449.1:p.Tyr283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093417",
      "coordinates": [
        {
          "allele": "C",
          "end": 1489,
          "referenceAllele": "T",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001034116.2:c.1465T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029288.1:p.Tyr489His",
        "hgvsWellDefined": "NP_001029288.1:p.Tyr489His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347454.9:c.1465T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001034116.2:c.1465T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233552.6:p.Tyr489His"
          },
          "RefSeq": {
            "hgvs": "NP_001029288.1:p.Tyr489His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024138",
      "coordinates": [
        {
          "allele": "C",
          "end": 1540,
          "referenceAllele": "T",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318965.2:c.1528T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305894.1:p.Tyr510His",
        "hgvsWellDefined": "NP_001305894.1:p.Tyr510His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717638"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827026004",
      "coordinates": [
        {
          "allele": "C",
          "end": 1667,
          "referenceAllele": "T",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318966.2:c.1420T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305895.1:p.Tyr474His",
        "hgvsWellDefined": "NP_001305895.1:p.Tyr474His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717639"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827026234",
      "coordinates": [
        {
          "allele": "C",
          "end": 1482,
          "referenceAllele": "T",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318967.2:c.1372T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305896.1:p.Tyr458His",
        "hgvsWellDefined": "NP_001305896.1:p.Tyr458His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717640"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827026369",
      "coordinates": [
        {
          "allele": "C",
          "end": 1470,
          "referenceAllele": "T",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318968.2:c.880T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305897.1:p.Tyr294His",
        "hgvsWellDefined": "NP_001305897.1:p.Tyr294His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827026511",
      "coordinates": [
        {
          "allele": "C",
          "end": 1463,
          "referenceAllele": "T",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318969.2:c.847T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305898.1:p.Tyr283His",
        "hgvsWellDefined": "NP_001305898.1:p.Tyr283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717642"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829837447",
      "coordinates": [
        {
          "allele": "C",
          "end": 1486,
          "referenceAllele": "T",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_015636.4:c.1462T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056451.3:p.Tyr488His",
        "hgvsWellDefined": "NP_056451.3:p.Tyr488His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830348574",
      "coordinates": [
        {
          "allele": "C",
          "end": 1537,
          "referenceAllele": "T",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_172195.4:c.1525T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_751945.2:p.Tyr509His",
        "hgvsWellDefined": "NP_751945.2:p.Tyr509His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729538"
    }
  ],
  "type": "nucleotide"
}