{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA390425933",
  "communityStandardTitle": [
    "NM_014239.4(EIF2B2):c.512C>A (p.Ser171Tyr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.75471518C>A?assembly=hg19",
        "id": "chr14:g.75471518C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.75004815C>A?assembly=hg38",
        "id": "chr14:g.75004815C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894428",
        "rs": 104894428
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-75471518-C-A?dataset=gnomad_r2_1",
        "id": "14-75471518-C-A",
        "variant": "14:75471518 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-75004815-C-A?dataset=gnomad_r4",
        "id": "14-75004815-C-A",
        "variant": "14:75004815 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 75004815,
          "referenceAllele": "C",
          "start": 75004814
        }
      ],
      "hgvs": [
        "NC_000014.9:g.75004815C>A",
        "CM000676.2:g.75004815C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 75471518,
          "referenceAllele": "C",
          "start": 75471517
        }
      ],
      "hgvs": [
        "NC_000014.8:g.75471518C>A",
        "CM000676.1:g.75471518C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 74541271,
          "referenceAllele": "C",
          "start": 74541270
        }
      ],
      "hgvs": [
        "NC_000014.7:g.74541271C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6907,
          "referenceAllele": "C",
          "start": 6906
        }
      ],
      "hgvs": [
        "NG_013333.1:g.6907C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002788"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 582,
          "referenceAllele": "C",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000266126.10:c.512C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266126.5:p.Ser171Tyr",
        "hgvsWellDefined": "ENSP00000266126.5:p.Ser171Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742927",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000266126.10:c.512C>A"
          },
          "RefSeq": {
            "hgvs": "NM_014239.4:c.512C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000266126.5:p.Ser171Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_055054.1:p.Ser171Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 592,
          "referenceAllele": "C",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000266126.9:c.512C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266126.5:p.Ser171Tyr",
        "hgvsWellDefined": "ENSP00000266126.5:p.Ser171Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000553401.5:c.485C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451681.1:p.Ser162Tyr",
        "hgvsWellDefined": "ENSP00000451681.1:p.Ser162Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 807,
          "referenceAllele": "C",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000553539.1:n.807C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000555522.1:n.570C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "referenceAllele": "C",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000556028.5:c.512C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452311.1:p.Ser171Tyr",
        "hgvsWellDefined": "ENSP00000452311.1:p.Ser171Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371904"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081107973",
      "coordinates": [
        {
          "allele": "A",
          "end": 594,
          "referenceAllele": "C",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "NM_014239.3:c.512C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055054.1:p.Ser171Tyr",
        "hgvsWellDefined": "NP_055054.1:p.Ser171Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033008"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081107973",
      "coordinates": [
        {
          "allele": "A",
          "end": 582,
          "referenceAllele": "C",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "NM_014239.4:c.512C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055054.1:p.Ser171Tyr",
        "hgvsWellDefined": "NP_055054.1:p.Ser171Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668247",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000266126.10:c.512C>A"
          },
          "RefSeq": {
            "hgvs": "NM_014239.4:c.512C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000266126.5:p.Ser171Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_055054.1:p.Ser171Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}