{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA769367708",
  "communityStandardTitle": [
    "NM_001430.5(EPAS1):c.217+3354C>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.46577556C>A?assembly=hg19",
        "id": "chr2:g.46577556C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.46350417C>A?assembly=hg38",
        "id": "chr2:g.46350417C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1012251254",
        "rs": 1012251254
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-46350417-C-A?dataset=gnomad_r3",
        "id": "2-46350417-C-A",
        "variant": "2:46350417 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-46350417-C-A?dataset=gnomad_r4",
        "id": "2-46350417-C-A",
        "variant": "2:46350417 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 46350417,
          "referenceAllele": "C",
          "start": 46350416
        }
      ],
      "hgvs": [
        "NC_000002.12:g.46350417C>A",
        "CM000664.2:g.46350417C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 46577556,
          "referenceAllele": "C",
          "start": 46577555
        }
      ],
      "hgvs": [
        "NC_000002.11:g.46577556C>A",
        "CM000664.1:g.46577556C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 46431060,
          "referenceAllele": "C",
          "start": 46431059
        }
      ],
      "hgvs": [
        "NC_000002.10:g.46431060C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 58016,
          "referenceAllele": "C",
          "start": 58015
        }
      ],
      "hgvs": [
        "NG_016000.1:g.58016C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002946"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 3354,
          "referenceAllele": "C",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003374",
      "geneNCBI_id": 2034,
      "geneSymbol": "EPAS1",
      "hgvs": [
        "ENST00000263734.5:c.217+3354C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263734.3:n.217+3354C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742558",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263734.5:c.217+3354C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001430.5:c.217+3354C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263734.3:n.217+3354C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001421.2:n.217+3354C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "endIntronDirection": "+",
          "endIntronOffset": 3354,
          "referenceAllele": "C",
          "start": 727,
          "startIntronDirection": "+",
          "startIntronOffset": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003374",
      "geneNCBI_id": 2034,
      "geneSymbol": "EPAS1",
      "hgvs": [
        "ENST00000263734.4:c.217+3354C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263734.3:n.217+3354C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 505,
          "endIntronDirection": "+",
          "endIntronOffset": 3354,
          "referenceAllele": "C",
          "start": 505,
          "startIntronDirection": "+",
          "startIntronOffset": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003374",
      "geneNCBI_id": 2034,
      "geneSymbol": "EPAS1",
      "hgvs": [
        "ENST00000449347.5:c.217+3354C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406137.1:n.217+3354C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 408,
          "endIntronDirection": "+",
          "endIntronOffset": 3354,
          "referenceAllele": "C",
          "start": 408,
          "startIntronDirection": "+",
          "startIntronOffset": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003374",
      "geneNCBI_id": 2034,
      "geneSymbol": "EPAS1",
      "hgvs": [
        "ENST00000475822.1:n.408+3354C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "endIntronDirection": "+",
          "endIntronOffset": 3354,
          "referenceAllele": "C",
          "start": 727,
          "startIntronDirection": "+",
          "startIntronOffset": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003374",
      "geneNCBI_id": 2034,
      "geneSymbol": "EPAS1",
      "hgvs": [
        "NM_001430.4:c.217+3354C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001421.2:n.217+3354C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 271,
          "endIntronDirection": "+",
          "endIntronOffset": 3354,
          "referenceAllele": "C",
          "start": 271,
          "startIntronDirection": "+",
          "startIntronOffset": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003374",
      "geneNCBI_id": 2034,
      "geneSymbol": "EPAS1",
      "hgvs": [
        "XM_011532698.1:c.256+3354C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531000.1:n.256+3354C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "endIntronDirection": "+",
          "endIntronOffset": 3354,
          "referenceAllele": "C",
          "start": 485,
          "startIntronDirection": "+",
          "startIntronOffset": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003374",
      "geneNCBI_id": 2034,
      "geneSymbol": "EPAS1",
      "hgvs": [
        "XM_011532698.2:c.256+3354C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531000.1:n.256+3354C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 3354,
          "referenceAllele": "C",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003374",
      "geneNCBI_id": 2034,
      "geneSymbol": "EPAS1",
      "hgvs": [
        "NM_001430.5:c.217+3354C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001421.2:n.217+3354C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664986",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263734.5:c.217+3354C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001430.5:c.217+3354C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263734.3:n.217+3354C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001421.2:n.217+3354C>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}