{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2338188842",
  "communityStandardTitle": [
    "NM_000483.5(APOC2):c.216-76A>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1599993853",
        "rs": 1599993853
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-44949083-A-C?dataset=gnomad_r4",
        "id": "19-44949083-A-C",
        "variant": "19:44949083 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 44949083,
          "referenceAllele": "A",
          "start": 44949082
        }
      ],
      "hgvs": [
        "NC_000019.10:g.44949083A>C",
        "CM000681.2:g.44949083A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 45452340,
          "referenceAllele": "A",
          "start": 45452339
        }
      ],
      "hgvs": [
        "NC_000019.9:g.45452340A>C",
        "CM000681.1:g.45452340A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 50144180,
          "referenceAllele": "A",
          "start": 50144179
        }
      ],
      "hgvs": [
        "NC_000019.8:g.50144180A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8098,
          "referenceAllele": "A",
          "start": 8097
        }
      ],
      "hgvs": [
        "NG_008837.1:g.8098A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001232"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "endIntronDirection": "-",
          "endIntronOffset": 75,
          "referenceAllele": "A",
          "start": 253,
          "startIntronDirection": "-",
          "startIntronOffset": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000252490.7:c.216-76A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252490.5:n.216-76A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252490.7:c.216-76A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000483.5:c.216-76A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252490.5:n.216-76A>C"
          },
          "RefSeq": {
            "hgvs": "NP_000474.2:n.216-76A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 322,
          "endIntronDirection": "-",
          "endIntronOffset": 75,
          "referenceAllele": "A",
          "start": 322,
          "startIntronDirection": "-",
          "startIntronOffset": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044426",
      "geneNCBI_id": 100533990,
      "geneSymbol": "APOC4-APOC2",
      "hgvs": [
        "ENST00000252490.5:c.216-76A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252490.4:n.216-76A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249824"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1422,
          "endIntronDirection": "-",
          "endIntronOffset": 75,
          "referenceAllele": "A",
          "start": 1422,
          "startIntronDirection": "-",
          "startIntronOffset": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044426",
      "geneNCBI_id": 100533990,
      "geneSymbol": "APOC4-APOC2",
      "hgvs": [
        "ENST00000585685.5:c.*999-76A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467185.1:n.*999-76A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 631,
          "referenceAllele": "A",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000585786.1:c.*219A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465001.1:n.*219A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 468,
          "endIntronDirection": "-",
          "endIntronOffset": 75,
          "referenceAllele": "A",
          "start": 468,
          "startIntronDirection": "-",
          "startIntronOffset": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044426",
      "geneNCBI_id": 100533990,
      "geneSymbol": "APOC4-APOC2",
      "hgvs": [
        "ENST00000589057.5:c.447-76A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468139.1:n.447-76A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 337,
          "endIntronDirection": "-",
          "endIntronOffset": 75,
          "referenceAllele": "A",
          "start": 337,
          "startIntronDirection": "-",
          "startIntronOffset": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000590360.2:c.216-76A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466775.1:n.216-76A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 206,
          "endIntronDirection": "-",
          "endIntronOffset": 75,
          "referenceAllele": "A",
          "start": 206,
          "startIntronDirection": "-",
          "startIntronOffset": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000591597.5:c.174-76A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476835.1:n.174-76A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "-",
          "endIntronOffset": 75,
          "referenceAllele": "A",
          "start": 207,
          "startIntronDirection": "-",
          "startIntronOffset": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000592257.5:c.*10-76A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477261.1:n.*10-76A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 322,
          "endIntronDirection": "-",
          "endIntronOffset": 75,
          "referenceAllele": "A",
          "start": 322,
          "startIntronDirection": "-",
          "startIntronOffset": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "NM_000483.4:c.216-76A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000474.2:n.216-76A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006537"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1422,
          "endIntronDirection": "-",
          "endIntronOffset": 75,
          "referenceAllele": "A",
          "start": 1422,
          "startIntronDirection": "-",
          "startIntronOffset": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044426",
      "geneNCBI_id": 100533990,
      "geneSymbol": "APOC4-APOC2",
      "hgvs": [
        "NR_037932.1:n.1423-76A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "endIntronDirection": "-",
          "endIntronOffset": 75,
          "referenceAllele": "A",
          "start": 253,
          "startIntronDirection": "-",
          "startIntronOffset": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "NM_000483.5:c.216-76A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000474.2:n.216-76A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252490.7:c.216-76A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000483.5:c.216-76A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252490.5:n.216-76A>C"
          },
          "RefSeq": {
            "hgvs": "NP_000474.2:n.216-76A>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}