{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1576644",
  "communityStandardTitle": [
    "NM_001034116.2(EIF2B4):c.1172C>T (p.Ala391Val)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-27589645-G-A",
        "id": "2-27589645-G-A",
        "variant": "2:27589645 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.27589645G>A?assembly=hg19",
        "id": "chr2:g.27589645G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.27366778G>A?assembly=hg38",
        "id": "chr2:g.27366778G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113994036",
        "rs": 113994036
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27589645-G-A?dataset=gnomad_r2_1",
        "id": "2-27589645-G-A",
        "variant": "2:27589645 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27366778-G-A?dataset=gnomad_r3",
        "id": "2-27366778-G-A",
        "variant": "2:27366778 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27366778-G-A?dataset=gnomad_r4",
        "id": "2-27366778-G-A",
        "variant": "2:27366778 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 27366778,
          "referenceAllele": "G",
          "start": 27366777
        }
      ],
      "hgvs": [
        "NC_000002.12:g.27366778G>A",
        "CM000664.2:g.27366778G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 27589645,
          "referenceAllele": "G",
          "start": 27589644
        }
      ],
      "hgvs": [
        "NC_000002.11:g.27589645G>A",
        "CM000664.1:g.27589645G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 27443149,
          "referenceAllele": "G",
          "start": 27443148
        }
      ],
      "hgvs": [
        "NC_000002.10:g.27443149G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8680,
          "referenceAllele": "C",
          "start": 8679
        }
      ],
      "hgvs": [
        "NG_009305.1:g.8680C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001560"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1196,
          "referenceAllele": "C",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000347454.9:c.1172C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233552.6:p.Ala391Val",
        "hgvsWellDefined": "ENSP00000233552.6:p.Ala391Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748337",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347454.9:c.1172C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001034116.2:c.1172C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233552.6:p.Ala391Val"
          },
          "RefSeq": {
            "hgvs": "NP_001029288.1:p.Ala391Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1344,
          "referenceAllele": "C",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000347454.8:c.1172C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233552.5:p.Ala391Val",
        "hgvsWellDefined": "ENSP00000233552.5:p.Ala391Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1147,
          "referenceAllele": "C",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000405940.6:c.*438C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384375.2:n.*438C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 746,
          "referenceAllele": "C",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000417567.1:c.746C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1189,
          "referenceAllele": "C",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000445933.6:c.1169C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394397.2:p.Ala390Val",
        "hgvsWellDefined": "ENSP00000394397.2:p.Ala390Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1232,
          "referenceAllele": "C",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000451130.6:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394869.2:p.Ala411Val",
        "hgvsWellDefined": "ENSP00000394869.2:p.Ala411Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3073,
          "referenceAllele": "C",
          "start": 3072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000475582.5:n.3073C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1548,
          "referenceAllele": "C",
          "start": 1547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000493344.6:c.1235C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429323.1:p.Ala412Val",
        "hgvsWellDefined": "ENSP00000429323.1:p.Ala412Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000616081.4:c.1163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477710.1:p.Ala388Val",
        "hgvsWellDefined": "ENSP00000477710.1:p.Ala388Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1334,
          "referenceAllele": "C",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "ENST00000622434.4:c.*438C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479991.1:n.*438C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001034116.1:c.1172C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029288.1:p.Ala391Val",
        "hgvsWellDefined": "NP_001029288.1:p.Ala391Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1312,
          "referenceAllele": "C",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_015636.3:c.1169C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056451.3:p.Ala390Val",
        "hgvsWellDefined": "NP_056451.3:p.Ala390Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066524035",
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "referenceAllele": "C",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_172195.3:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_751945.2:p.Ala411Val",
        "hgvsWellDefined": "NP_751945.2:p.Ala411Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1336,
          "referenceAllele": "C",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "XM_005264632.1:c.1127C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264689.1:p.Ala376Val",
        "hgvsWellDefined": "XP_005264689.1:p.Ala376Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1362,
          "referenceAllele": "C",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "XM_006712132.1:c.1124C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712195.1:p.Ala375Val",
        "hgvsWellDefined": "XP_006712195.1:p.Ala375Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1101,
          "referenceAllele": "C",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "XM_011533147.1:c.554C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531449.1:p.Ala185Val",
        "hgvsWellDefined": "XP_011531449.1:p.Ala185Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1771,
          "endIntronDirection": "-",
          "endIntronOffset": 645,
          "referenceAllele": "G",
          "start": 1771,
          "startIntronDirection": "-",
          "startIntronOffset": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055699",
      "geneNCBI_id": 105374363,
      "geneSymbol": "GTF3C2-AS2",
      "hgvs": [
        "XR_939868.1:n.1772-646G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1274,
          "referenceAllele": "C",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318965.1:c.1235C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305894.1:p.Ala412Val",
        "hgvsWellDefined": "NP_001305894.1:p.Ala412Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1365,
          "referenceAllele": "C",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318966.1:c.1127C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305895.1:p.Ala376Val",
        "hgvsWellDefined": "NP_001305895.1:p.Ala376Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1308,
          "referenceAllele": "C",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318967.1:c.1079C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305896.1:p.Ala360Val",
        "hgvsWellDefined": "NP_001305896.1:p.Ala360Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1204,
          "referenceAllele": "C",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318968.1:c.587C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305897.1:p.Ala196Val",
        "hgvsWellDefined": "NP_001305897.1:p.Ala196Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318969.1:c.554C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305898.1:p.Ala185Val",
        "hgvsWellDefined": "NP_001305898.1:p.Ala185Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1170,
          "referenceAllele": "C",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "XM_011533147.2:c.554C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531449.1:p.Ala185Val",
        "hgvsWellDefined": "XP_011531449.1:p.Ala185Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1196,
          "referenceAllele": "C",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001034116.2:c.1172C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029288.1:p.Ala391Val",
        "hgvsWellDefined": "NP_001029288.1:p.Ala391Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347454.9:c.1172C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001034116.2:c.1172C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233552.6:p.Ala391Val"
          },
          "RefSeq": {
            "hgvs": "NP_001029288.1:p.Ala391Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1247,
          "referenceAllele": "C",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318965.2:c.1235C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305894.1:p.Ala412Val",
        "hgvsWellDefined": "NP_001305894.1:p.Ala412Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1374,
          "referenceAllele": "C",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318966.2:c.1127C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305895.1:p.Ala376Val",
        "hgvsWellDefined": "NP_001305895.1:p.Ala376Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1189,
          "referenceAllele": "C",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318967.2:c.1079C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305896.1:p.Ala360Val",
        "hgvsWellDefined": "NP_001305896.1:p.Ala360Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717640"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1177,
          "referenceAllele": "C",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318968.2:c.587C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305897.1:p.Ala196Val",
        "hgvsWellDefined": "NP_001305897.1:p.Ala196Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1170,
          "referenceAllele": "C",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_001318969.2:c.554C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305898.1:p.Ala185Val",
        "hgvsWellDefined": "NP_001305898.1:p.Ala185Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1193,
          "referenceAllele": "C",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_015636.4:c.1169C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056451.3:p.Ala390Val",
        "hgvsWellDefined": "NP_056451.3:p.Ala390Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066524035",
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "C",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NM_172195.4:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_751945.2:p.Ala411Val",
        "hgvsWellDefined": "NP_751945.2:p.Ala411Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729538"
    }
  ],
  "type": "nucleotide"
}