{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2338167826",
  "communityStandardTitle": [
    "NM_000041.4(APOE):c.237-2A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514253",
        "rs": 397514253
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 44908531,
          "referenceAllele": "A",
          "start": 44908530
        }
      ],
      "hgvs": [
        "NC_000019.10:g.44908531A=",
        "CM000681.2:g.44908531A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 45411788,
          "referenceAllele": "A",
          "start": 45411787
        }
      ],
      "hgvs": [
        "NC_000019.9:g.45411788A=",
        "CM000681.1:g.45411788A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 50103628,
          "referenceAllele": "A",
          "start": 50103627
        }
      ],
      "hgvs": [
        "NC_000019.8:g.50103628A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7750,
          "referenceAllele": "A",
          "start": 7749
        }
      ],
      "hgvs": [
        "NG_007084.2:g.7750A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000464"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 305,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 305,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "ENST00000252486.9:c.237-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252486.3:n.237-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741532",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252486.9:c.237-2A="
          },
          "RefSeq": {
            "hgvs": "NM_000041.4:c.237-2A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252486.3:n.237-2A="
          },
          "RefSeq": {
            "hgvs": "NP_000032.1:n.237-2A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 347,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 347,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "ENST00000252486.8:c.237-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252486.3:n.237-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249822"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 501,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 501,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "ENST00000425718.1:c.237-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410423.1:n.237-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 371,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 371,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "ENST00000434152.5:c.315-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413653.2:n.315-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 325,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 325,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "ENST00000446996.5:c.237-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413135.1:n.237-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 352,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_000041.3:c.237-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000032.1:n.237-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 434,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_001302688.1:c.315-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001289617.1:n.315-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 283,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_001302689.1:c.237-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001289618.1:n.237-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 383,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_001302690.1:c.237-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001289619.1:n.237-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 367,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 367,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_001302691.1:c.237-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001289620.1:n.237-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 305,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 305,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_000041.4:c.237-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000032.1:n.237-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662297",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252486.9:c.237-2A="
          },
          "RefSeq": {
            "hgvs": "NM_000041.4:c.237-2A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252486.3:n.237-2A="
          },
          "RefSeq": {
            "hgvs": "NP_000032.1:n.237-2A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 387,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 387,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_001302688.2:c.315-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001289617.1:n.315-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 283,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_001302689.2:c.237-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001289618.1:n.237-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 320,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 320,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_001302691.2:c.237-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001289620.1:n.237-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 383,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_001302690.2:c.237-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001289619.1:n.237-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716994"
    }
  ],
  "type": "nucleotide"
}