{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406295179",
  "communityStandardTitle": [
    "NM_000483.5(APOC2):c.235A>G (p.Thr79Ala)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.45452435A>G?assembly=hg19",
        "id": "chr19:g.45452435A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.44949178A>G?assembly=hg38",
        "id": "chr19:g.44949178A>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 44949178,
          "referenceAllele": "A",
          "start": 44949177
        }
      ],
      "hgvs": [
        "NC_000019.10:g.44949178A>G",
        "CM000681.2:g.44949178A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 45452435,
          "referenceAllele": "A",
          "start": 45452434
        }
      ],
      "hgvs": [
        "NC_000019.9:g.45452435A>G",
        "CM000681.1:g.45452435A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 50144275,
          "referenceAllele": "A",
          "start": 50144274
        }
      ],
      "hgvs": [
        "NC_000019.8:g.50144275A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8193,
          "referenceAllele": "A",
          "start": 8192
        }
      ],
      "hgvs": [
        "NG_008837.1:g.8193A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001232"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 273,
          "referenceAllele": "A",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000252490.7:c.235A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252490.5:p.Thr79Ala",
        "hgvsWellDefined": "ENSP00000252490.5:p.Thr79Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252490.7:c.235A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000483.5:c.235A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252490.5:p.Thr79Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000474.2:p.Thr79Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 342,
          "referenceAllele": "A",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044426",
      "geneNCBI_id": 100533990,
      "geneSymbol": "APOC4-APOC2",
      "hgvs": [
        "ENST00000252490.5:c.235A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252490.4:p.Thr79Ala",
        "hgvsWellDefined": "ENSP00000252490.4:p.Thr79Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1442,
          "referenceAllele": "A",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044426",
      "geneNCBI_id": 100533990,
      "geneSymbol": "APOC4-APOC2",
      "hgvs": [
        "ENST00000585685.5:c.*1018A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467185.1:n.*1018A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388889"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 726,
          "referenceAllele": "A",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000585786.1:c.*314A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465001.1:n.*314A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388947"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 488,
          "referenceAllele": "A",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044426",
      "geneNCBI_id": 100533990,
      "geneSymbol": "APOC4-APOC2",
      "hgvs": [
        "ENST00000589057.5:c.466A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468139.1:p.Thr156Ala",
        "hgvsWellDefined": "ENSP00000468139.1:p.Thr156Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391222"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 357,
          "referenceAllele": "A",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000590360.2:c.235A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466775.1:p.Thr79Ala",
        "hgvsWellDefined": "ENSP00000466775.1:p.Thr79Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 226,
          "referenceAllele": "A",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000591597.5:c.193A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476835.1:p.Thr65Ala",
        "hgvsWellDefined": "ENSP00000476835.1:p.Thr65Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 227,
          "referenceAllele": "A",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "ENST00000592257.5:c.*29A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477261.1:n.*29A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 342,
          "referenceAllele": "A",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "NM_000483.4:c.235A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000474.2:p.Thr79Ala",
        "hgvsWellDefined": "NP_000474.2:p.Thr79Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1442,
          "referenceAllele": "A",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044426",
      "geneNCBI_id": 100533990,
      "geneSymbol": "APOC4-APOC2",
      "hgvs": [
        "NR_037932.1:n.1442A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050210"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 273,
          "referenceAllele": "A",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000609",
      "geneNCBI_id": 344,
      "geneSymbol": "APOC2",
      "hgvs": [
        "NM_000483.5:c.235A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000474.2:p.Thr79Ala",
        "hgvsWellDefined": "NP_000474.2:p.Thr79Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252490.7:c.235A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000483.5:c.235A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252490.5:p.Thr79Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000474.2:p.Thr79Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}