{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2147299046",
  "communityStandardTitle": [
    "NM_014239.4(EIF2B2):c.547C= (p.Arg183=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894427",
        "rs": 104894427
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 75004850,
          "referenceAllele": "C",
          "start": 75004849
        }
      ],
      "hgvs": [
        "NC_000014.9:g.75004850C=",
        "CM000676.2:g.75004850C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 75471553,
          "referenceAllele": "C",
          "start": 75471552
        }
      ],
      "hgvs": [
        "NC_000014.8:g.75471553C=",
        "CM000676.1:g.75471553C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 74541306,
          "referenceAllele": "C",
          "start": 74541305
        }
      ],
      "hgvs": [
        "NC_000014.7:g.74541306C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6942,
          "referenceAllele": "C",
          "start": 6941
        }
      ],
      "hgvs": [
        "NG_013333.1:g.6942C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002788"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000266126.10:c.547C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266126.5:p.Arg183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742927",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000266126.10:c.547C="
          },
          "RefSeq": {
            "hgvs": "NM_014239.4:c.547C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000266126.5:p.Arg183="
          },
          "RefSeq": {
            "hgvs": "NP_055054.1:p.Arg183="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 627,
          "referenceAllele": "C",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000266126.9:c.547C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266126.5:p.Arg183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 520,
          "referenceAllele": "C",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000553401.5:c.520C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451681.1:p.Arg174="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 842,
          "referenceAllele": "C",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000553539.1:n.842C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000555522.1:n.605C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371498"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 564,
          "referenceAllele": "C",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000556028.5:c.547C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452311.1:p.Arg183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371904"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081107974",
      "coordinates": [
        {
          "allele": "C",
          "end": 629,
          "referenceAllele": "C",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "NM_014239.3:c.547C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055054.1:p.Arg183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033008"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081107974",
      "coordinates": [
        {
          "allele": "C",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "NM_014239.4:c.547C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055054.1:p.Arg183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668247",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000266126.10:c.547C="
          },
          "RefSeq": {
            "hgvs": "NM_014239.4:c.547C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000266126.5:p.Arg183="
          },
          "RefSeq": {
            "hgvs": "NP_055054.1:p.Arg183="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}