{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2308672105",
  "communityStandardTitle": [
    "NM_000633.3(BCL2):c.586-83694G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/17757541",
        "rs": 17757541
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 63212453,
          "referenceAllele": "C",
          "start": 63212452
        }
      ],
      "hgvs": [
        "NC_000018.10:g.63212453C=",
        "CM000680.2:g.63212453C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 60879686,
          "referenceAllele": "C",
          "start": 60879685
        }
      ],
      "hgvs": [
        "NC_000018.9:g.60879686C=",
        "CM000680.1:g.60879686C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 59030666,
          "referenceAllele": "C",
          "start": 59030665
        }
      ],
      "hgvs": [
        "NC_000018.8:g.59030666C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 111928,
          "referenceAllele": "G",
          "start": 111927
        }
      ],
      "hgvs": [
        "NG_009361.1:g.111928G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001569"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1467,
          "endIntronDirection": "-",
          "endIntronOffset": 83693,
          "referenceAllele": "G",
          "start": 1467,
          "startIntronDirection": "-",
          "startIntronOffset": 83694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000990",
      "geneNCBI_id": 596,
      "geneSymbol": "BCL2",
      "hgvs": [
        "ENST00000333681.5:c.586-83694G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329623.3:n.586-83694G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747333",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333681.5:c.586-83694G="
          },
          "RefSeq": {
            "hgvs": "NM_000633.3:c.586-83694G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329623.3:n.586-83694G="
          },
          "RefSeq": {
            "hgvs": "NP_000624.2:n.586-83694G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 913,
          "endIntronDirection": "+",
          "endIntronOffset": 68434,
          "referenceAllele": "G",
          "start": 913,
          "startIntronDirection": "+",
          "startIntronOffset": 68433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000990",
      "geneNCBI_id": 596,
      "geneSymbol": "BCL2",
      "hgvs": [
        "ENST00000677227.1:c.913+68434G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504566.1:n.913+68434G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776890"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 83693,
          "referenceAllele": "G",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 83694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000990",
      "geneNCBI_id": 596,
      "geneSymbol": "BCL2",
      "hgvs": [
        "ENST00000678134.1:c.790-83694G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503628.1:n.790-83694G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1137,
          "endIntronDirection": "-",
          "endIntronOffset": 83693,
          "referenceAllele": "G",
          "start": 1137,
          "startIntronDirection": "-",
          "startIntronOffset": 83694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000990",
      "geneNCBI_id": 596,
      "geneSymbol": "BCL2",
      "hgvs": [
        "ENST00000678349.1:c.1138-83694G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504190.1:n.1138-83694G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1484,
          "endIntronDirection": "-",
          "endIntronOffset": 83693,
          "referenceAllele": "G",
          "start": 1484,
          "startIntronDirection": "-",
          "startIntronOffset": 83694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000990",
      "geneNCBI_id": 596,
      "geneSymbol": "BCL2",
      "hgvs": [
        "ENST00000333681.4:c.586-83694G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329623.3:n.586-83694G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2047,
          "endIntronDirection": "-",
          "endIntronOffset": 83693,
          "referenceAllele": "G",
          "start": 2047,
          "startIntronDirection": "-",
          "startIntronOffset": 83694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000990",
      "geneNCBI_id": 596,
      "geneSymbol": "BCL2",
      "hgvs": [
        "ENST00000398117.1:c.586-83694G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381185.1:n.586-83694G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278138"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1078,
          "endIntronDirection": "-",
          "endIntronOffset": 83693,
          "referenceAllele": "G",
          "start": 1078,
          "startIntronDirection": "-",
          "startIntronOffset": 83694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000990",
      "geneNCBI_id": 596,
      "geneSymbol": "BCL2",
      "hgvs": [
        "NM_000633.2:c.586-83694G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000624.2:n.586-83694G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2025,
          "endIntronDirection": "+",
          "endIntronOffset": 68434,
          "referenceAllele": "G",
          "start": 2025,
          "startIntronDirection": "+",
          "startIntronOffset": 68433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000990",
      "geneNCBI_id": 596,
      "geneSymbol": "BCL2",
      "hgvs": [
        "XR_935246.1:n.2025+68434G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1804,
          "endIntronDirection": "+",
          "endIntronOffset": 68434,
          "referenceAllele": "G",
          "start": 1804,
          "startIntronDirection": "+",
          "startIntronOffset": 68433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000990",
      "geneNCBI_id": 596,
      "geneSymbol": "BCL2",
      "hgvs": [
        "XR_935248.1:n.1804+68434G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130516"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2306,
          "endIntronDirection": "+",
          "endIntronOffset": 68434,
          "referenceAllele": "G",
          "start": 2306,
          "startIntronDirection": "+",
          "startIntronOffset": 68433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000990",
      "geneNCBI_id": 596,
      "geneSymbol": "BCL2",
      "hgvs": [
        "XR_935248.3:n.2306+68434G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610939"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1467,
          "endIntronDirection": "-",
          "endIntronOffset": 83693,
          "referenceAllele": "G",
          "start": 1467,
          "startIntronDirection": "-",
          "startIntronOffset": 83694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000990",
      "geneNCBI_id": 596,
      "geneSymbol": "BCL2",
      "hgvs": [
        "NM_000633.3:c.586-83694G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000624.2:n.586-83694G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333681.5:c.586-83694G="
          },
          "RefSeq": {
            "hgvs": "NM_000633.3:c.586-83694G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329623.3:n.586-83694G="
          },
          "RefSeq": {
            "hgvs": "NP_000624.2:n.586-83694G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}