{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2066080499",
  "communityStandardTitle": [
    "NM_173598.6(KSR2):c.1519-4528G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7964157",
        "rs": 7964157
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 117544415,
          "referenceAllele": "C",
          "start": 117544414
        }
      ],
      "hgvs": [
        "NC_000012.12:g.117544415C=",
        "CM000674.2:g.117544415C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 117982220,
          "referenceAllele": "C",
          "start": 117982219
        }
      ],
      "hgvs": [
        "NC_000012.11:g.117982220C=",
        "CM000674.1:g.117982220C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 116466603,
          "referenceAllele": "C",
          "start": 116466602
        }
      ],
      "hgvs": [
        "NC_000012.10:g.116466603C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2253,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 2253,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "ENST00000339824.7:c.1519-4528G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339952.4:n.1519-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747848",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339824.7:c.1519-4528G="
          },
          "RefSeq": {
            "hgvs": "NM_173598.6:c.1519-4528G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339952.4:n.1519-4528G="
          },
          "RefSeq": {
            "hgvs": "NP_775869.4:n.1519-4528G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2246,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 2246,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "ENST00000339824.6:c.1519-4528G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339952.4:n.1519-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1486,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 1486,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "ENST00000425217.5:c.1432-4528G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389715.1:n.1432-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288655"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 61,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 61,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "ENST00000543793.1:n.62-4528G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "ENST00000545002.1:n.665-4528G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1486,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 1486,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "NM_173598.4:c.1432-4528G="
      ],
      "proteinEffect": {
        "hgvs": "NP_775869.3:n.1432-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2344,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 2344,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538224.1:c.1513-4528G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536526.1:n.1513-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105181"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1427,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 1427,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538225.1:c.1156-4528G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536527.1:n.1156-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2356,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 2356,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538226.1:c.1519-4528G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536528.1:n.1519-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 802,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 802,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538227.1:c.655-4528G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536529.1:n.655-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 645,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538228.1:c.610-4528G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536530.1:n.610-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2366,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 2366,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538229.1:c.1519-4528G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536531.1:n.1519-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105186"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 332,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 332,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538230.1:c.259-4528G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536532.1:n.259-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105187"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2352,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 2352,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XR_944522.1:n.2353-4528G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1814,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 1814,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538224.3:c.1513-4528G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536526.1:n.1513-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2280,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 2280,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538225.3:c.1156-4528G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536527.1:n.1156-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1820,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 1820,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538226.3:c.1519-4528G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536528.1:n.1519-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553209"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1820,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 1820,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538229.3:c.1519-4528G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536531.1:n.1519-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553210"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1820,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 1820,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_017019208.2:c.1519-4528G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874697.1:n.1519-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570960"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1820,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 1820,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_017019209.2:c.1519-4528G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874698.1:n.1519-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 271,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 271,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_017019210.2:c.214-4528G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874699.1:n.214-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2253,
          "endIntronDirection": "-",
          "endIntronOffset": 4527,
          "referenceAllele": "G",
          "start": 2253,
          "startIntronDirection": "-",
          "startIntronOffset": 4528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "NM_173598.6:c.1519-4528G="
      ],
      "proteinEffect": {
        "hgvs": "NP_775869.4:n.1519-4528G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700613",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339824.7:c.1519-4528G="
          },
          "RefSeq": {
            "hgvs": "NM_173598.6:c.1519-4528G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339952.4:n.1519-4528G="
          },
          "RefSeq": {
            "hgvs": "NP_775869.4:n.1519-4528G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}