{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15751871",
  "communityStandardTitle": [
    "NM_173598.6(KSR2):c.2219+1921C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.117960736G>A?assembly=hg19",
        "id": "chr12:g.117960736G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.117522931G>A?assembly=hg38",
        "id": "chr12:g.117522931G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7974925",
        "rs": 7974925
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-117960736-G-A?dataset=gnomad_r2_1",
        "id": "12-117960736-G-A",
        "variant": "12:117960736 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-117522931-G-A?dataset=gnomad_r3",
        "id": "12-117522931-G-A",
        "variant": "12:117522931 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-117522931-G-A?dataset=gnomad_r4",
        "id": "12-117522931-G-A",
        "variant": "12:117522931 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 117522931,
          "referenceAllele": "G",
          "start": 117522930
        }
      ],
      "hgvs": [
        "NC_000012.12:g.117522931G>A",
        "CM000674.2:g.117522931G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 117960736,
          "referenceAllele": "G",
          "start": 117960735
        }
      ],
      "hgvs": [
        "NC_000012.11:g.117960736G>A",
        "CM000674.1:g.117960736G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 116445119,
          "referenceAllele": "G",
          "start": 116445118
        }
      ],
      "hgvs": [
        "NC_000012.10:g.116445119G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2954,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 2954,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "ENST00000339824.7:c.2219+1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339952.4:n.2219+1921C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747848",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339824.7:c.2219+1921C>T"
          },
          "RefSeq": {
            "hgvs": "NM_173598.6:c.2219+1921C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339952.4:n.2219+1921C>T"
          },
          "RefSeq": {
            "hgvs": "NP_775869.4:n.2219+1921C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2947,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 2947,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "ENST00000339824.6:c.2219+1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339952.4:n.2219+1921C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2187,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 2187,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "ENST00000425217.5:c.2132+1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389715.1:n.2132+1921C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1365,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 1365,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "ENST00000545002.1:n.1365+1921C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2187,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 2187,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "NM_173598.4:c.2132+1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_775869.3:n.2132+1921C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042941"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3045,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 3045,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538224.1:c.2213+1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536526.1:n.2213+1921C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2128,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 2128,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538225.1:c.1856+1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536527.1:n.1856+1921C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3057,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 3057,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538226.1:c.2219+1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536528.1:n.2219+1921C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1503,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 1503,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538227.1:c.1355+1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536529.1:n.1355+1921C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1346,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 1346,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538228.1:c.1310+1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536530.1:n.1310+1921C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1033,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 1033,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538230.1:c.959+1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536532.1:n.959+1921C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3053,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 3053,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XR_944522.1:n.3053+1921C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2515,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 2515,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538224.3:c.2213+1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536526.1:n.2213+1921C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2981,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 2981,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538225.3:c.1856+1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536527.1:n.1856+1921C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2521,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 2521,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_011538226.3:c.2219+1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536528.1:n.2219+1921C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2521,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 2521,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_017019208.2:c.2219+1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874697.1:n.2219+1921C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 972,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 972,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "XM_017019210.2:c.914+1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874699.1:n.914+1921C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2954,
          "endIntronDirection": "+",
          "endIntronOffset": 1921,
          "referenceAllele": "C",
          "start": 2954,
          "startIntronDirection": "+",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018610",
      "geneNCBI_id": 283455,
      "geneSymbol": "KSR2",
      "hgvs": [
        "NM_173598.6:c.2219+1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_775869.4:n.2219+1921C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700613",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339824.7:c.2219+1921C>T"
          },
          "RefSeq": {
            "hgvs": "NM_173598.6:c.2219+1921C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339952.4:n.2219+1921C>T"
          },
          "RefSeq": {
            "hgvs": "NP_775869.4:n.2219+1921C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}