{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2066106233",
  "communityStandardTitle": [
    "NM_173598.6(KSR2):c.2220-4686G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12828172",
        "rs": 12828172
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 117490377,
          "referenceAllele": "C",
          "start": 117490376
        }
      ],
      "hgvs": [
        "NC_000012.12:g.117490377C=",
        "CM000674.2:g.117490377C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 117928182,
          "referenceAllele": "C",
          "start": 117928181
        }
      ],
      "hgvs": [
        "NC_000012.11:g.117928182C=",
        "CM000674.1:g.117928182C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 116412565,
          "referenceAllele": "C",
          "start": 116412564
        }
      ],
      "hgvs": [
        "NC_000012.10:g.116412565C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2954,
          "endIntronDirection": "-",
          "endIntronOffset": 4685,
          "referenceAllele": "G",
          "start": 2954,
          "startIntronDirection": "-",
          "startIntronOffset": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "ENST00000339824.7:c.2220-4686G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339952.4:n.2220-4686G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747848",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339824.7:c.2220-4686G="
          },
          "RefSeq": {
            "hgvs": "NM_173598.6:c.2220-4686G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339952.4:n.2220-4686G="
          },
          "RefSeq": {
            "hgvs": "NP_775869.4:n.2220-4686G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2947,
          "endIntronDirection": "-",
          "endIntronOffset": 4685,
          "referenceAllele": "G",
          "start": 2947,
          "startIntronDirection": "-",
          "startIntronOffset": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "ENST00000339824.6:c.2220-4686G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339952.4:n.2220-4686G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2187,
          "endIntronDirection": "-",
          "endIntronOffset": 4685,
          "referenceAllele": "G",
          "start": 2187,
          "startIntronDirection": "-",
          "startIntronOffset": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "ENST00000425217.5:c.2133-4686G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389715.1:n.2133-4686G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288655"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2187,
          "endIntronDirection": "-",
          "endIntronOffset": 4685,
          "referenceAllele": "G",
          "start": 2187,
          "startIntronDirection": "-",
          "startIntronOffset": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "NM_173598.4:c.2133-4686G="
      ],
      "proteinEffect": {
        "hgvs": "NP_775869.3:n.2133-4686G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3045,
          "endIntronDirection": "-",
          "endIntronOffset": 4685,
          "referenceAllele": "G",
          "start": 3045,
          "startIntronDirection": "-",
          "startIntronOffset": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538224.1:c.2214-4686G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536526.1:n.2214-4686G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105181"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2128,
          "endIntronDirection": "-",
          "endIntronOffset": 4685,
          "referenceAllele": "G",
          "start": 2128,
          "startIntronDirection": "-",
          "startIntronOffset": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538225.1:c.1857-4686G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536527.1:n.1857-4686G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1503,
          "endIntronDirection": "-",
          "endIntronOffset": 4685,
          "referenceAllele": "G",
          "start": 1503,
          "startIntronDirection": "-",
          "startIntronOffset": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538227.1:c.1356-4686G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536529.1:n.1356-4686G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1346,
          "endIntronDirection": "-",
          "endIntronOffset": 4685,
          "referenceAllele": "G",
          "start": 1346,
          "startIntronDirection": "-",
          "startIntronOffset": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538228.1:c.1311-4686G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536530.1:n.1311-4686G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1033,
          "endIntronDirection": "-",
          "endIntronOffset": 4685,
          "referenceAllele": "G",
          "start": 1033,
          "startIntronDirection": "-",
          "startIntronOffset": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538230.1:c.960-4686G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536532.1:n.960-4686G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105187"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3053,
          "endIntronDirection": "-",
          "endIntronOffset": 4685,
          "referenceAllele": "G",
          "start": 3053,
          "startIntronDirection": "-",
          "startIntronOffset": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XR_944522.1:n.3054-4686G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2515,
          "endIntronDirection": "-",
          "endIntronOffset": 4685,
          "referenceAllele": "G",
          "start": 2515,
          "startIntronDirection": "-",
          "startIntronOffset": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538224.3:c.2214-4686G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536526.1:n.2214-4686G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2981,
          "endIntronDirection": "-",
          "endIntronOffset": 4685,
          "referenceAllele": "G",
          "start": 2981,
          "startIntronDirection": "-",
          "startIntronOffset": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538225.3:c.1857-4686G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536527.1:n.1857-4686G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2521,
          "endIntronDirection": "-",
          "endIntronOffset": 4685,
          "referenceAllele": "G",
          "start": 2521,
          "startIntronDirection": "-",
          "startIntronOffset": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_017019208.2:c.2220-4686G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874697.1:n.2220-4686G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570960"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 972,
          "endIntronDirection": "-",
          "endIntronOffset": 4685,
          "referenceAllele": "G",
          "start": 972,
          "startIntronDirection": "-",
          "startIntronOffset": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_017019210.2:c.915-4686G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874699.1:n.915-4686G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2954,
          "endIntronDirection": "-",
          "endIntronOffset": 4685,
          "referenceAllele": "G",
          "start": 2954,
          "startIntronDirection": "-",
          "startIntronOffset": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "NM_173598.6:c.2220-4686G="
      ],
      "proteinEffect": {
        "hgvs": "NP_775869.4:n.2220-4686G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700613",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339824.7:c.2220-4686G="
          },
          "RefSeq": {
            "hgvs": "NM_173598.6:c.2220-4686G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339952.4:n.2220-4686G="
          },
          "RefSeq": {
            "hgvs": "NP_775869.4:n.2220-4686G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}