{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2338188892",
  "communityStandardTitle": [
    "NM_000483.5(APOC2):c.244A= (p.Met82=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/533467250",
        "rs": 533467250
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 44949187,
          "referenceAllele": "A",
          "start": 44949186
        }
      ],
      "hgvs": [
        "NC_000019.10:g.44949187A=",
        "CM000681.2:g.44949187A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 45452444,
          "referenceAllele": "A",
          "start": 45452443
        }
      ],
      "hgvs": [
        "NC_000019.9:g.45452444A=",
        "CM000681.1:g.45452444A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 50144284,
          "referenceAllele": "A",
          "start": 50144283
        }
      ],
      "hgvs": [
        "NC_000019.8:g.50144284A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8202,
          "referenceAllele": "A",
          "start": 8201
        }
      ],
      "hgvs": [
        "NG_008837.1:g.8202A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001232"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 282,
          "referenceAllele": "A",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000252490.7:c.244A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252490.5:p.Met82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252490.7:c.244A="
          },
          "RefSeq": {
            "hgvs": "NM_000483.5:c.244A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252490.5:p.Met82="
          },
          "RefSeq": {
            "hgvs": "NP_000474.2:p.Met82="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "referenceAllele": "A",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044426",
      "geneNCBI_id": 100533990,
      "geneSymbol": "APOC4-APOC2",
      "hgvs": [
        "ENST00000252490.5:c.244A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252490.4:p.Met82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1451,
          "referenceAllele": "A",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044426",
      "geneNCBI_id": 100533990,
      "geneSymbol": "APOC4-APOC2",
      "hgvs": [
        "ENST00000585685.5:c.*1027A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467185.1:n.*1027A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "referenceAllele": "A",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000585786.1:c.*323A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465001.1:n.*323A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 497,
          "referenceAllele": "A",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044426",
      "geneNCBI_id": 100533990,
      "geneSymbol": "APOC4-APOC2",
      "hgvs": [
        "ENST00000589057.5:c.475A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468139.1:p.Met159="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 366,
          "referenceAllele": "A",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000590360.2:c.244A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466775.1:p.Met82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 235,
          "referenceAllele": "A",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000591597.5:c.202A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476835.1:p.Met68="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 236,
          "referenceAllele": "A",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000592257.5:c.*38A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477261.1:n.*38A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393438"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086040195",
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "referenceAllele": "A",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "NM_000483.4:c.244A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000474.2:p.Met82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1451,
          "referenceAllele": "A",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044426",
      "geneNCBI_id": 100533990,
      "geneSymbol": "APOC4-APOC2",
      "hgvs": [
        "NR_037932.1:n.1451A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086040195",
      "coordinates": [
        {
          "allele": "A",
          "end": 282,
          "referenceAllele": "A",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "NM_000483.5:c.244A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000474.2:p.Met82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252490.7:c.244A="
          },
          "RefSeq": {
            "hgvs": "NM_000483.5:c.244A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252490.5:p.Met82="
          },
          "RefSeq": {
            "hgvs": "NP_000474.2:p.Met82="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}