{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA952300851",
  "communityStandardTitle": [
    "NM_173598.6(KSR2):c.986+28907G>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4304868",
        "rs": 4304868
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-117732104-C-G?dataset=gnomad_r3",
        "id": "12-117732104-C-G",
        "variant": "12:117732104 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-117732104-C-G?dataset=gnomad_r4",
        "id": "12-117732104-C-G",
        "variant": "12:117732104 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 117732104,
          "referenceAllele": "C",
          "start": 117732103
        }
      ],
      "hgvs": [
        "NC_000012.12:g.117732104C>G",
        "CM000674.2:g.117732104C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 118169909,
          "referenceAllele": "C",
          "start": 118169908
        }
      ],
      "hgvs": [
        "NC_000012.11:g.118169909C>G",
        "CM000674.1:g.118169909C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 116654292,
          "referenceAllele": "C",
          "start": 116654291
        }
      ],
      "hgvs": [
        "NC_000012.10:g.116654292C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1721,
          "endIntronDirection": "+",
          "endIntronOffset": 28907,
          "referenceAllele": "G",
          "start": 1721,
          "startIntronDirection": "+",
          "startIntronOffset": 28906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "ENST00000339824.7:c.986+28907G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339952.4:n.986+28907G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747848",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339824.7:c.986+28907G>C"
          },
          "RefSeq": {
            "hgvs": "NM_173598.6:c.986+28907G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339952.4:n.986+28907G>C"
          },
          "RefSeq": {
            "hgvs": "NP_775869.4:n.986+28907G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1714,
          "endIntronDirection": "+",
          "endIntronOffset": 28907,
          "referenceAllele": "G",
          "start": 1714,
          "startIntronDirection": "+",
          "startIntronOffset": 28906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "ENST00000339824.6:c.986+28907G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339952.4:n.986+28907G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260954"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 954,
          "endIntronDirection": "+",
          "endIntronOffset": 28907,
          "referenceAllele": "G",
          "start": 954,
          "startIntronDirection": "+",
          "startIntronOffset": 28906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "ENST00000425217.5:c.899+28907G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389715.1:n.899+28907G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 954,
          "endIntronDirection": "+",
          "endIntronOffset": 28907,
          "referenceAllele": "G",
          "start": 954,
          "startIntronDirection": "+",
          "startIntronOffset": 28906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "NM_173598.4:c.899+28907G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_775869.3:n.899+28907G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1818,
          "endIntronDirection": "+",
          "endIntronOffset": 28907,
          "referenceAllele": "G",
          "start": 1818,
          "startIntronDirection": "+",
          "startIntronOffset": 28906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538224.1:c.986+28907G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536526.1:n.986+28907G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105181"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 895,
          "endIntronDirection": "+",
          "endIntronOffset": 28907,
          "referenceAllele": "G",
          "start": 895,
          "startIntronDirection": "+",
          "startIntronOffset": 28906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538225.1:c.623+28907G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536527.1:n.623+28907G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1824,
          "endIntronDirection": "+",
          "endIntronOffset": 28907,
          "referenceAllele": "G",
          "start": 1824,
          "startIntronDirection": "+",
          "startIntronOffset": 28906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538226.1:c.986+28907G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536528.1:n.986+28907G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1834,
          "endIntronDirection": "+",
          "endIntronOffset": 28907,
          "referenceAllele": "G",
          "start": 1834,
          "startIntronDirection": "+",
          "startIntronOffset": 28906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538229.1:c.986+28907G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536531.1:n.986+28907G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105186"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1820,
          "endIntronDirection": "+",
          "endIntronOffset": 28907,
          "referenceAllele": "G",
          "start": 1820,
          "startIntronDirection": "+",
          "startIntronOffset": 28906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XR_944522.1:n.1820+28907G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "+",
          "endIntronOffset": 28907,
          "referenceAllele": "G",
          "start": 1288,
          "startIntronDirection": "+",
          "startIntronOffset": 28906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538224.3:c.986+28907G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536526.1:n.986+28907G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1748,
          "endIntronDirection": "+",
          "endIntronOffset": 28907,
          "referenceAllele": "G",
          "start": 1748,
          "startIntronDirection": "+",
          "startIntronOffset": 28906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538225.3:c.623+28907G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536527.1:n.623+28907G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "+",
          "endIntronOffset": 28907,
          "referenceAllele": "G",
          "start": 1288,
          "startIntronDirection": "+",
          "startIntronOffset": 28906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538226.3:c.986+28907G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536528.1:n.986+28907G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "+",
          "endIntronOffset": 28907,
          "referenceAllele": "G",
          "start": 1288,
          "startIntronDirection": "+",
          "startIntronOffset": 28906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538229.3:c.986+28907G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536531.1:n.986+28907G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "+",
          "endIntronOffset": 28907,
          "referenceAllele": "G",
          "start": 1288,
          "startIntronDirection": "+",
          "startIntronOffset": 28906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_017019208.2:c.986+28907G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874697.1:n.986+28907G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570960"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "endIntronDirection": "+",
          "endIntronOffset": 28907,
          "referenceAllele": "G",
          "start": 1288,
          "startIntronDirection": "+",
          "startIntronOffset": 28906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_017019209.2:c.986+28907G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874698.1:n.986+28907G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570961"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1721,
          "endIntronDirection": "+",
          "endIntronOffset": 28907,
          "referenceAllele": "G",
          "start": 1721,
          "startIntronDirection": "+",
          "startIntronOffset": 28906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "NM_173598.6:c.986+28907G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_775869.4:n.986+28907G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700613",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339824.7:c.986+28907G>C"
          },
          "RefSeq": {
            "hgvs": "NM_173598.6:c.986+28907G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339952.4:n.986+28907G>C"
          },
          "RefSeq": {
            "hgvs": "NP_775869.4:n.986+28907G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}