{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406295160",
  "communityStandardTitle": [
    "NM_000483.5(APOC2):c.232A>T (p.Ser78Cys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.45452432A>T?assembly=hg19",
        "id": "chr19:g.45452432A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.44949175A>T?assembly=hg38",
        "id": "chr19:g.44949175A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 44949175,
          "referenceAllele": "A",
          "start": 44949174
        }
      ],
      "hgvs": [
        "NC_000019.10:g.44949175A>T",
        "CM000681.2:g.44949175A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 45452432,
          "referenceAllele": "A",
          "start": 45452431
        }
      ],
      "hgvs": [
        "NC_000019.9:g.45452432A>T",
        "CM000681.1:g.45452432A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 50144272,
          "referenceAllele": "A",
          "start": 50144271
        }
      ],
      "hgvs": [
        "NC_000019.8:g.50144272A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8190,
          "referenceAllele": "A",
          "start": 8189
        }
      ],
      "hgvs": [
        "NG_008837.1:g.8190A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001232"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 270,
          "referenceAllele": "A",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000252490.7:c.232A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252490.5:p.Ser78Cys",
        "hgvsWellDefined": "ENSP00000252490.5:p.Ser78Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252490.7:c.232A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000483.5:c.232A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252490.5:p.Ser78Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000474.2:p.Ser78Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 339,
          "referenceAllele": "A",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044426",
      "geneNCBI_id": 100533990,
      "geneSymbol": "APOC4-APOC2",
      "hgvs": [
        "ENST00000252490.5:c.232A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252490.4:p.Ser78Cys",
        "hgvsWellDefined": "ENSP00000252490.4:p.Ser78Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1439,
          "referenceAllele": "A",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044426",
      "geneNCBI_id": 100533990,
      "geneSymbol": "APOC4-APOC2",
      "hgvs": [
        "ENST00000585685.5:c.*1015A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467185.1:n.*1015A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 723,
          "referenceAllele": "A",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000585786.1:c.*311A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465001.1:n.*311A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 485,
          "referenceAllele": "A",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044426",
      "geneNCBI_id": 100533990,
      "geneSymbol": "APOC4-APOC2",
      "hgvs": [
        "ENST00000589057.5:c.463A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468139.1:p.Ser155Cys",
        "hgvsWellDefined": "ENSP00000468139.1:p.Ser155Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "A",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000590360.2:c.232A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466775.1:p.Ser78Cys",
        "hgvsWellDefined": "ENSP00000466775.1:p.Ser78Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "referenceAllele": "A",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000591597.5:c.190A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476835.1:p.Ser64Cys",
        "hgvsWellDefined": "ENSP00000476835.1:p.Ser64Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "referenceAllele": "A",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000592257.5:c.*26A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477261.1:n.*26A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 339,
          "referenceAllele": "A",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "NM_000483.4:c.232A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000474.2:p.Ser78Cys",
        "hgvsWellDefined": "NP_000474.2:p.Ser78Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1439,
          "referenceAllele": "A",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044426",
      "geneNCBI_id": 100533990,
      "geneSymbol": "APOC4-APOC2",
      "hgvs": [
        "NR_037932.1:n.1439A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 270,
          "referenceAllele": "A",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "NM_000483.5:c.232A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000474.2:p.Ser78Cys",
        "hgvsWellDefined": "NP_000474.2:p.Ser78Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252490.7:c.232A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000483.5:c.232A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252490.5:p.Ser78Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000474.2:p.Ser78Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}