{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA336037",
  "communityStandardTitle": [
    "NM_007194.4(CHEK2):c.593-1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=213487[alleleid]",
        "alleleId": 213487,
        "preferredName": "NM_007194.4(CHEK2):c.593-1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216003",
        "RCV": [
          "RCV000195929",
          "RCV000566129",
          "RCV002485316"
        ],
        "variationId": 216003
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.29115474C>A?assembly=hg19",
        "id": "chr22:g.29115474C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.28719486C>A?assembly=hg38",
        "id": "chr22:g.28719486C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786203229",
        "rs": 786203229
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-28719486-C-A?dataset=gnomad_r4",
        "id": "22-28719486-C-A",
        "variant": "22:28719486 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 28719486,
          "referenceAllele": "C",
          "start": 28719485
        }
      ],
      "hgvs": [
        "NC_000022.11:g.28719486C>A",
        "CM000684.2:g.28719486C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 29115474,
          "referenceAllele": "C",
          "start": 29115473
        }
      ],
      "hgvs": [
        "NC_000022.10:g.29115474C>A",
        "CM000684.1:g.29115474C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 27445474,
          "referenceAllele": "C",
          "start": 27445473
        }
      ],
      "hgvs": [
        "NC_000022.9:g.27445474C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27349,
          "referenceAllele": "G",
          "start": 27348
        }
      ],
      "hgvs": [
        "NG_008150.1:g.27349G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27381,
          "referenceAllele": "G",
          "start": 27380
        }
      ],
      "hgvs": [
        "NG_008150.2:g.27381G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616095"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "endIntronDirection": "+",
          "endIntronOffset": 5491,
          "referenceAllele": "G",
          "start": 592,
          "startIntronDirection": "+",
          "startIntronOffset": 5490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000439346.6:c.592+5491G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396903.2:n.592+5491G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 643,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 643,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000711048.1:c.593-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518557.1:n.593-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 488,
          "endIntronDirection": "+",
          "endIntronOffset": 5400,
          "referenceAllele": "G",
          "start": 488,
          "startIntronDirection": "+",
          "startIntronOffset": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000402731.6:c.482+5400G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384835.2:n.482+5400G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 650,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 650,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000404276.6:c.593-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385747.1:n.593-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754083",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000404276.6:c.593-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_007194.4:c.593-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385747.1:n.593-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_009125.1:n.593-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 316,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000425190.7:c.-71-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390244.2:n.-71-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 38,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000649563.1:c.-71-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496928.1:n.-71-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 752,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 752,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000650281.1:c.593-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497000.1:n.593-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 674,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 674,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000328354.10:c.593-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329178.6:n.593-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000348295.7:c.593-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329012.5:n.593-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 797,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000382580.6:c.722-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372023.2:n.722-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 592,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000402731.5:c.593-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384835.1:n.593-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 319,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 319,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000403642.5:c.320-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384919.1:n.320-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 592,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000404276.5:c.593-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385747.1:n.593-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 784,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000405598.5:c.593-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386087.1:n.593-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1366,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1366,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000416671.5:c.*83-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402225.1:n.*83-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "endIntronDirection": "+",
          "endIntronOffset": 5491,
          "referenceAllele": "G",
          "start": 592,
          "startIntronDirection": "+",
          "startIntronOffset": 5490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000417588.5:c.592+5491G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412901.1:n.592+5491G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 316,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000425190.6:c.-71-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390244.1:n.-71-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 847,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000433028.6:c.*318-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403659.1:n.*318-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 592,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000433728.5:c.593-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404400.1:n.593-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 706,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 706,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000439200.5:c.686-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408065.1:n.686-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154,
          "endIntronDirection": "+",
          "endIntronOffset": 5491,
          "referenceAllele": "G",
          "start": 154,
          "startIntronDirection": "+",
          "startIntronOffset": 5490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000439346.5:c.154+5491G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396903.1:n.154+5491G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 488,
          "endIntronDirection": "+",
          "endIntronOffset": 5400,
          "referenceAllele": "G",
          "start": 488,
          "startIntronDirection": "+",
          "startIntronOffset": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000447421.5:c.482+5400G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397478.2:n.482+5400G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 482,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 482,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000448511.5:c.483-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404567.1:n.483-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 793,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 793,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001005735.1:c.722-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005735.1:n.722-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 778,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001257387.1:c.-71-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244316.1:n.-71-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_007194.3:c.593-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009125.1:n.593-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_145862.2:c.593-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_665861.1:n.593-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 751,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 751,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529839.1:c.752-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528141.1:n.752-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 787,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529840.1:c.752-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528142.1:n.752-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 687,
          "endIntronDirection": "+",
          "endIntronOffset": 5400,
          "referenceAllele": "G",
          "start": 687,
          "startIntronDirection": "+",
          "startIntronOffset": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529841.1:c.611+5400G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528143.1:n.611+5400G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "endIntronDirection": "+",
          "endIntronOffset": 5400,
          "referenceAllele": "G",
          "start": 512,
          "startIntronDirection": "+",
          "startIntronOffset": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529842.1:c.512+5400G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528144.1:n.512+5400G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "endIntronDirection": "+",
          "endIntronOffset": 5400,
          "referenceAllele": "G",
          "start": 554,
          "startIntronDirection": "+",
          "startIntronOffset": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529843.1:c.482+5400G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528145.1:n.482+5400G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 813,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529844.1:c.752-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528146.1:n.752-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 410,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 410,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529845.1:c.-71-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528147.1:n.-71-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 813,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937805.1:n.814-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 808,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937806.1:n.809-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 808,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937807.1:n.809-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "endIntronDirection": "+",
          "endIntronOffset": 5400,
          "referenceAllele": "G",
          "start": 554,
          "startIntronDirection": "+",
          "startIntronOffset": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001349956.1:c.482+5400G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336885.1:n.482+5400G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 650,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 650,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_007194.4:c.593-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009125.1:n.593-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000404276.6:c.593-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_007194.4:c.593-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385747.1:n.593-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_009125.1:n.593-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 815,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529839.2:c.752-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528141.1:n.752-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 818,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529840.3:c.752-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528142.1:n.752-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "endIntronDirection": "+",
          "endIntronOffset": 5400,
          "referenceAllele": "G",
          "start": 575,
          "startIntronDirection": "+",
          "startIntronOffset": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529842.2:c.512+5400G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528144.1:n.512+5400G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 825,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 825,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529844.2:c.752-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528146.1:n.752-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 371,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 371,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529845.2:c.-71-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528147.1:n.-71-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 779,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 779,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_017028560.1:c.716-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884049.1:n.716-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 22,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_017028561.2:c.-71-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884050.1:n.-71-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578278"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 682,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 682,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_024452148.1:c.623-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307916.1:n.623-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 685,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_024452149.1:c.623-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307917.1:n.623-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 824,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937805.2:n.825-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 824,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937806.2:n.825-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 824,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937807.2:n.825-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 779,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 779,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001005735.2:c.722-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005735.1:n.722-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 764,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001257387.2:c.-71-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244316.1:n.-71-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "endIntronDirection": "+",
          "endIntronOffset": 5400,
          "referenceAllele": "G",
          "start": 540,
          "startIntronDirection": "+",
          "startIntronOffset": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001349956.2:c.482+5400G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336885.1:n.482+5400G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688142"
    }
  ],
  "type": "nucleotide"
}