{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16616300",
  "communityStandardTitle": [
    "NM_007194.4(CHEK2):c.1462-1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=403793[alleleid]",
        "alleleId": 403793,
        "preferredName": "NM_007194.4(CHEK2):c.1462-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/410026",
        "RCV": [
          "RCV000474737",
          "RCV000773145"
        ],
        "variationId": 410026
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.29085204C>T?assembly=hg19",
        "id": "chr22:g.29085204C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.28689216C>T?assembly=hg38",
        "id": "chr22:g.28689216C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060502698",
        "rs": 1060502698
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-28689216-C-T?dataset=gnomad_r3",
        "id": "22-28689216-C-T",
        "variant": "22:28689216 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-28689216-C-T?dataset=gnomad_r4",
        "id": "22-28689216-C-T",
        "variant": "22:28689216 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 28689216,
          "referenceAllele": "C",
          "start": 28689215
        }
      ],
      "hgvs": [
        "NC_000022.11:g.28689216C>T",
        "CM000684.2:g.28689216C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 29085204,
          "referenceAllele": "C",
          "start": 29085203
        }
      ],
      "hgvs": [
        "NC_000022.10:g.29085204C>T",
        "CM000684.1:g.29085204C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 27415204,
          "referenceAllele": "C",
          "start": 27415203
        }
      ],
      "hgvs": [
        "NC_000022.9:g.27415204C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57619,
          "referenceAllele": "G",
          "start": 57618
        }
      ],
      "hgvs": [
        "NG_008150.1:g.57619G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000896"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57651,
          "referenceAllele": "G",
          "start": 57650
        }
      ],
      "hgvs": [
        "NG_008150.2:g.57651G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616095"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1261,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1261,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000711048.1:c.*197-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518557.1:n.*197-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1266,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000402731.6:c.1261-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384835.2:n.1261-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1519,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1519,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000404276.6:c.1462-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385747.1:n.1462-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754083",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000404276.6:c.1462-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_007194.4:c.1462-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385747.1:n.1462-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_009125.1:n.1462-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1185,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1185,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000425190.7:c.799-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390244.2:n.799-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "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": [
        "ENST00000464581.6:c.802-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483777.2:n.802-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756803"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1013,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1013,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000648295.1:n.1014-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 907,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 907,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000649563.1:c.799-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496928.1:n.799-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1621,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1621,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000650281.1:c.1462-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497000.1:n.1462-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771033"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1543,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1543,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000328354.10:c.1462-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329178.6:n.1462-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1446,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1446,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000348295.7:c.1375-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329012.5:n.1375-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262457"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1666,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1666,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000382580.6:c.1591-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372023.2:n.1591-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1374,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1374,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000402731.5:c.1375-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384835.1:n.1375-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1188,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1188,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000403642.5:c.1189-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384919.1:n.1189-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1461,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1461,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000404276.5:c.1462-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385747.1:n.1462-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1653,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1653,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000405598.5:c.1462-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386087.1:n.1462-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2235,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2235,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000416671.5:c.*952-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402225.1:n.*952-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1370,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1370,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000417588.5:c.1371-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412901.1:n.1371-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1399,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1399,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000433728.5:c.1400-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404400.1:n.1400-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 659,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 659,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000434810.5:c.660-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS293227"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1351,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000448511.5:c.1352-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404567.1:n.1352-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 263,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 263,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000456369.5:c.264-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 195,
          "referenceAllele": "G",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000472807.1:n.195G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1662,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1662,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001005735.1:c.1591-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005735.1:n.1591-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1647,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1647,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001257387.1:c.799-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244316.1:n.799-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_007194.3:c.1462-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009125.1:n.1462-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1446,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1446,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_145862.2:c.1375-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_665861.1:n.1375-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 996,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 996,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_006724114.2:c.982-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724177.1:n.982-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075363"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 921,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 921,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_006724116.2:c.919-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724179.2:n.919-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1620,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1620,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529839.1:c.1621-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528141.1:n.1621-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1569,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529840.1:c.1534-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528142.1:n.1534-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1465,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1465,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529841.1:c.1390-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528143.1:n.1390-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1290,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1290,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529842.1:c.1291-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528144.1:n.1291-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1332,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1332,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529843.1:c.1261-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528145.1:n.1261-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096902"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1279,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1279,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529845.1:c.799-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528147.1:n.799-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096904"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1620,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1620,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937805.1:n.1621-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1332,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1332,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001349956.1:c.1261-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336885.1:n.1261-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1519,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1519,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_007194.4:c.1462-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009125.1:n.1462-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000404276.6:c.1462-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_007194.4:c.1462-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385747.1:n.1462-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_009125.1:n.1462-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1176,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1176,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_006724114.3:c.1015-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724177.2:n.1015-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540895"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1684,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1684,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529839.2:c.1621-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528141.1:n.1621-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549681"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1600,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1600,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529840.3:c.1534-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528142.1:n.1534-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1353,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1353,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529842.2:c.1291-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528144.1:n.1291-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1240,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1240,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529845.2:c.799-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528147.1:n.799-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1648,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1648,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_017028560.1:c.1585-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884049.1:n.1585-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 891,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_017028561.2:c.799-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884050.1:n.799-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1551,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1551,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_024452148.1:c.1492-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307916.1:n.1492-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1467,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1467,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_024452149.1:c.1405-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307917.1:n.1405-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1631,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1631,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937805.2:n.1632-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1648,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1648,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001005735.2:c.1591-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005735.1:n.1591-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1633,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1633,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001257387.2:c.799-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244316.1:n.799-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1318,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1318,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001349956.2:c.1261-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336885.1:n.1261-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688142"
    }
  ],
  "type": "nucleotide"
}