{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2493480574",
  "communityStandardTitle": [
    "NM_000384.3(APOB):c.3121+359T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12713956",
        "rs": 12713956
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 21018633,
          "referenceAllele": "A",
          "start": 21018632
        }
      ],
      "hgvs": [
        "NC_000002.12:g.21018633A=",
        "CM000664.2:g.21018633A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 21241505,
          "referenceAllele": "A",
          "start": 21241504
        }
      ],
      "hgvs": [
        "NC_000002.11:g.21241505A=",
        "CM000664.1:g.21241505A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 21095010,
          "referenceAllele": "A",
          "start": 21095009
        }
      ],
      "hgvs": [
        "NC_000002.10:g.21095010A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30441,
          "referenceAllele": "T",
          "start": 30440
        }
      ],
      "hgvs": [
        "NG_011793.1:g.30441T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001975"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3095,
          "endIntronDirection": "+",
          "endIntronOffset": 359,
          "referenceAllele": "T",
          "start": 3095,
          "startIntronDirection": "+",
          "startIntronOffset": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "ENST00000673739.2:c.*2427+359T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501110.2:n.*2427+359T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3095,
          "endIntronDirection": "+",
          "endIntronOffset": 359,
          "referenceAllele": "T",
          "start": 3095,
          "startIntronDirection": "+",
          "startIntronOffset": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "ENST00000673882.2:c.*2427+359T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501253.2:n.*2427+359T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2835,
          "endIntronDirection": "+",
          "endIntronOffset": 359,
          "referenceAllele": "T",
          "start": 2835,
          "startIntronDirection": "+",
          "startIntronOffset": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "ENST00000673739.1:c.2835+359T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501110.1:n.2835+359T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2835,
          "endIntronDirection": "+",
          "endIntronOffset": 359,
          "referenceAllele": "T",
          "start": 2835,
          "startIntronDirection": "+",
          "startIntronOffset": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "ENST00000673882.1:c.2835+359T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501253.1:n.2835+359T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3249,
          "endIntronDirection": "+",
          "endIntronOffset": 359,
          "referenceAllele": "T",
          "start": 3249,
          "startIntronDirection": "+",
          "startIntronOffset": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "ENST00000233242.5:c.3121+359T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233242.1:n.3121+359T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247308",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233242.5:c.3121+359T="
          },
          "RefSeq": {
            "hgvs": "NM_000384.3:c.3121+359T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233242.1:n.3121+359T="
          },
          "RefSeq": {
            "hgvs": "NP_000375.3:n.3121+359T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3121,
          "endIntronDirection": "+",
          "endIntronOffset": 359,
          "referenceAllele": "T",
          "start": 3121,
          "startIntronDirection": "+",
          "startIntronOffset": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "ENST00000616098.4:c.3121+359T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477990.1:n.3121+359T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3249,
          "endIntronDirection": "+",
          "endIntronOffset": 359,
          "referenceAllele": "T",
          "start": 3249,
          "startIntronDirection": "+",
          "startIntronOffset": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "NM_000384.2:c.3121+359T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000375.2:n.3121+359T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3249,
          "endIntronDirection": "+",
          "endIntronOffset": 359,
          "referenceAllele": "T",
          "start": 3249,
          "startIntronDirection": "+",
          "startIntronOffset": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "XM_011532809.1:c.3121+359T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531111.1:n.3121+359T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3249,
          "endIntronDirection": "+",
          "endIntronOffset": 359,
          "referenceAllele": "T",
          "start": 3249,
          "startIntronDirection": "+",
          "startIntronOffset": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "NM_000384.3:c.3121+359T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000375.3:n.3121+359T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674822",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233242.5:c.3121+359T="
          },
          "RefSeq": {
            "hgvs": "NM_000384.3:c.3121+359T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233242.1:n.3121+359T="
          },
          "RefSeq": {
            "hgvs": "NP_000375.3:n.3121+359T="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}