{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA625552",
  "communityStandardTitle": [
    "NM_004431.5(EPHA2):c.297G>A (p.Lys99=)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-16475399-C-T",
        "id": "1-16475399-C-T",
        "variant": "1:16475399 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.16475399C>T?assembly=hg19",
        "id": "chr1:g.16475399C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.16148904C>T?assembly=hg38",
        "id": "chr1:g.16148904C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1058372",
        "rs": 1058372
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-16475399-C-T?dataset=gnomad_r2_1",
        "id": "1-16475399-C-T",
        "variant": "1:16475399 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-16148904-C-T?dataset=gnomad_r4",
        "id": "1-16148904-C-T",
        "variant": "1:16148904 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 16148904,
          "referenceAllele": "C",
          "start": 16148903
        }
      ],
      "hgvs": [
        "NC_000001.11:g.16148904C>T",
        "CM000663.2:g.16148904C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 16475399,
          "referenceAllele": "C",
          "start": 16475398
        }
      ],
      "hgvs": [
        "NC_000001.10:g.16475399C>T",
        "CM000663.1:g.16475399C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 16347986,
          "referenceAllele": "C",
          "start": 16347985
        }
      ],
      "hgvs": [
        "NC_000001.9:g.16347986C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12184,
          "referenceAllele": "G",
          "start": 12183
        }
      ],
      "hgvs": [
        "NG_021396.1:g.12184G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003623"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "referenceAllele": "G",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003386",
      "geneNCBI_id": 1969,
      "geneSymbol": "EPHA2",
      "hgvs": [
        "ENST00000358432.8:c.297G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351209.5:p.Lys99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749070",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358432.8:c.297G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004431.5:c.297G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351209.5:p.Lys99="
          },
          "RefSeq": {
            "hgvs": "NP_004422.2:p.Lys99="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 452,
          "referenceAllele": "G",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003386",
      "geneNCBI_id": 1969,
      "geneSymbol": "EPHA2",
      "hgvs": [
        "ENST00000358432.7:c.297G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351209.5:p.Lys99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 349,
          "referenceAllele": "G",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003386",
      "geneNCBI_id": 1969,
      "geneSymbol": "EPHA2",
      "hgvs": [
        "ENST00000461614.1:n.349G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306081"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063874391",
      "coordinates": [
        {
          "allele": "A",
          "end": 452,
          "referenceAllele": "G",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003386",
      "geneNCBI_id": 1969,
      "geneSymbol": "EPHA2",
      "hgvs": [
        "NM_004431.3:c.297G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004422.2:p.Lys99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 406,
          "referenceAllele": "G",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003386",
      "geneNCBI_id": 1969,
      "geneSymbol": "EPHA2",
      "hgvs": [
        "NM_001329090.1:c.135G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316019.1:p.Lys45="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063874391",
      "coordinates": [
        {
          "allele": "A",
          "end": 474,
          "referenceAllele": "G",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003386",
      "geneNCBI_id": 1969,
      "geneSymbol": "EPHA2",
      "hgvs": [
        "NM_004431.4:c.297G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004422.2:p.Lys99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 469,
          "referenceAllele": "G",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003386",
      "geneNCBI_id": 1969,
      "geneSymbol": "EPHA2",
      "hgvs": [
        "XM_017000537.1:c.297G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856026.1:p.Lys99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556883"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063874391",
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "referenceAllele": "G",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003386",
      "geneNCBI_id": 1969,
      "geneSymbol": "EPHA2",
      "hgvs": [
        "NM_004431.5:c.297G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004422.2:p.Lys99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358432.8:c.297G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004431.5:c.297G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351209.5:p.Lys99="
          },
          "RefSeq": {
            "hgvs": "NP_004422.2:p.Lys99="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 366,
          "referenceAllele": "G",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003386",
      "geneNCBI_id": 1969,
      "geneSymbol": "EPHA2",
      "hgvs": [
        "NM_001329090.2:c.135G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316019.1:p.Lys45="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686520"
    }
  ],
  "type": "nucleotide"
}