{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA411103079",
  "communityStandardTitle": [
    "NM_007194.4(CHEK2):c.779C>G (p.Ser260Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2751858[alleleid]",
        "alleleId": 2751858,
        "preferredName": "NM_007194.4(CHEK2):c.779C>G (p.Ser260Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2584292",
        "RCV": [
          "RCV003335740"
        ],
        "variationId": 2584292
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.29107910G>C?assembly=hg19",
        "id": "chr22:g.29107910G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.28711922G>C?assembly=hg38",
        "id": "chr22:g.28711922G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060502710",
        "rs": 1060502710
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 28711922,
          "referenceAllele": "G",
          "start": 28711921
        }
      ],
      "hgvs": [
        "NC_000022.11:g.28711922G>C",
        "CM000684.2:g.28711922G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 29107910,
          "referenceAllele": "G",
          "start": 29107909
        }
      ],
      "hgvs": [
        "NC_000022.10:g.29107910G>C",
        "CM000684.1:g.29107910G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 27437910,
          "referenceAllele": "G",
          "start": 27437909
        }
      ],
      "hgvs": [
        "NC_000022.9:g.27437910G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34913,
          "referenceAllele": "C",
          "start": 34912
        }
      ],
      "hgvs": [
        "NG_008150.1:g.34913C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000896"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34945,
          "referenceAllele": "C",
          "start": 34944
        }
      ],
      "hgvs": [
        "NG_008150.2:g.34945C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616095"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 688,
          "referenceAllele": "C",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000439346.6:c.688C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396903.2:n.688C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 830,
          "referenceAllele": "C",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000711048.1:c.779C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518557.1:p.Ser260Ter",
        "hgvsWellDefined": "ENSP00000518557.1:p.Ser260_Pro337delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "referenceAllele": "C",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000402731.6:c.578C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384835.2:p.Ser193Ter",
        "hgvsWellDefined": "ENSP00000384835.2:p.Ser193_Leu476delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 837,
          "referenceAllele": "C",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000404276.6:c.779C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385747.1:p.Ser260Ter",
        "hgvsWellDefined": "ENSP00000385747.1:p.Ser260_Leu543delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754083",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000404276.6:c.779C>G"
          },
          "RefSeq": {
            "hgvs": "NM_007194.4:c.779C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385747.1:p.Ser260Ter"
          },
          "RefSeq": {
            "hgvs": "NP_009125.1:p.Ser260Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 503,
          "referenceAllele": "C",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000425190.7:c.116C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390244.2:p.Ser39Ter",
        "hgvsWellDefined": "ENSP00000390244.2:p.Ser39_Leu322delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 131,
          "referenceAllele": "C",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000464581.6:c.119C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483777.2:p.Ser40Ter",
        "hgvsWellDefined": "ENSP00000483777.2:p.Ser40_Leu323delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756803"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "referenceAllele": "C",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000648295.1:n.331C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769890"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 225,
          "referenceAllele": "C",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000649563.1:c.116C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496928.1:p.Ser39Ter",
        "hgvsWellDefined": "ENSP00000496928.1:p.Ser39_Leu322delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 939,
          "referenceAllele": "C",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000650281.1:c.779C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497000.1:p.Ser260Ter",
        "hgvsWellDefined": "ENSP00000497000.1:p.Ser260_Leu543delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771033"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 861,
          "referenceAllele": "C",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000328354.10:c.779C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329178.6:p.Ser260Ter",
        "hgvsWellDefined": "ENSP00000329178.6:p.Ser260_Leu543delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258903"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 851,
          "referenceAllele": "C",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000348295.7:c.779C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329012.5:p.Ser260Ter",
        "hgvsWellDefined": "ENSP00000329012.5:p.Ser260_Leu514delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 984,
          "referenceAllele": "C",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000382580.6:c.908C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372023.2:p.Ser303Ter",
        "hgvsWellDefined": "ENSP00000372023.2:p.Ser303_Leu586delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000402731.5:c.779C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384835.1:p.Ser260Ter",
        "hgvsWellDefined": "ENSP00000384835.1:p.Ser260_Leu514delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "referenceAllele": "C",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000403642.5:c.506C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384919.1:p.Ser169Ter",
        "hgvsWellDefined": "ENSP00000384919.1:p.Ser169_Leu452delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000404276.5:c.779C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385747.1:p.Ser260Ter",
        "hgvsWellDefined": "ENSP00000385747.1:p.Ser260_Leu543delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 971,
          "referenceAllele": "C",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000405598.5:c.779C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386087.1:p.Ser260Ter",
        "hgvsWellDefined": "ENSP00000386087.1:p.Ser260_Leu543delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1553,
          "referenceAllele": "C",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000416671.5:c.*269C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402225.1:n.*269C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 688,
          "referenceAllele": "C",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000417588.5:c.688C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412901.1:n.688C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 503,
          "referenceAllele": "C",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000425190.6:c.116C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390244.1:p.Ser39Ter",
        "hgvsWellDefined": "ENSP00000390244.1:p.Ser39Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "C",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000433028.6:c.*504C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403659.1:n.*504C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000433728.5:c.779C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404400.1:p.Ser260Ter",
        "hgvsWellDefined": "ENSP00000404400.1:p.Ser260_Val289delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisAspGlyArgGlyArgAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10,
          "referenceAllele": "C",
          "start": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000434810.5:c.10C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS293227"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 893,
          "referenceAllele": "C",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000439200.5:c.872C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408065.1:p.Ser291Ter",
        "hgvsWellDefined": "ENSP00000408065.1:p.Ser291_Ala295del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295309"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 250,
          "referenceAllele": "C",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000439346.5:c.250C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396903.1:n.250C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "referenceAllele": "C",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000447421.5:c.578C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397478.2:p.Ser193Ter",
        "hgvsWellDefined": "ENSP00000397478.2:p.Ser193_Lys298del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000448511.5:c.669C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404567.1:n.669C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34,
          "referenceAllele": "C",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000456369.5:c.34C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 131,
          "referenceAllele": "C",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000464581.5:c.119C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483777.1:p.Ser40Ter",
        "hgvsWellDefined": "ENSP00000483777.1:p.Ser40Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 336,
          "referenceAllele": "C",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000491919.5:n.336C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825276967",
      "coordinates": [
        {
          "allele": "G",
          "end": 980,
          "referenceAllele": "C",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001005735.1:c.908C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005735.1:p.Ser303Ter",
        "hgvsWellDefined": "NP_001005735.1:p.Ser303_Leu586delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007770"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915982877",
      "coordinates": [
        {
          "allele": "G",
          "end": 965,
          "referenceAllele": "C",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001257387.1:c.116C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244316.1:p.Ser39Ter",
        "hgvsWellDefined": "NP_001244316.1:p.Ser39_Leu322delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019622"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645498476",
      "coordinates": [
        {
          "allele": "G",
          "end": 851,
          "referenceAllele": "C",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_007194.3:c.779C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009125.1:p.Ser260Ter",
        "hgvsWellDefined": "NP_009125.1:p.Ser260_Leu543delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830301061",
      "coordinates": [
        {
          "allele": "G",
          "end": 851,
          "referenceAllele": "C",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_145862.2:c.779C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_665861.1:p.Ser260Ter",
        "hgvsWellDefined": "NP_665861.1:p.Ser260_Leu514delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 314,
          "referenceAllele": "C",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_006724114.2:c.299C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724177.1:p.Ser100Ter",
        "hgvsWellDefined": "XP_006724177.1:p.Ser100_Leu383delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075363"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 239,
          "referenceAllele": "C",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_006724116.2:c.236C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724179.2:p.Ser79Ter",
        "hgvsWellDefined": "XP_006724179.2:p.Ser79_Leu362delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529839.1:c.938C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528141.1:p.Ser313Ter",
        "hgvsWellDefined": "XP_011528141.1:p.Ser313_Leu596delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096898"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529840.1:c.938C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528142.1:p.Ser313Ter",
        "hgvsWellDefined": "XP_011528142.1:p.Ser313_Leu567delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096899"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529841.1:c.707C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528143.1:p.Ser236Ter",
        "hgvsWellDefined": "XP_011528143.1:p.Ser236_Leu519delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529842.1:c.608C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528144.1:p.Ser203Ter",
        "hgvsWellDefined": "XP_011528144.1:p.Ser203_Leu486delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529843.1:c.578C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528145.1:p.Ser193Ter",
        "hgvsWellDefined": "XP_011528145.1:p.Ser193_Leu476delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096902"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1000,
          "referenceAllele": "C",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529844.1:c.938C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528146.1:p.Ser313Ter",
        "hgvsWellDefined": "XP_011528146.1:p.Ser313_Leu409delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnPheSerMetIleLeuGluAsnMetValValCysIleThrAlaTyrGlyPheThrGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096903"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 597,
          "referenceAllele": "C",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529845.1:c.116C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528147.1:p.Ser39Ter",
        "hgvsWellDefined": "XP_011528147.1:p.Ser39_Leu322delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096904"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1000,
          "referenceAllele": "C",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937805.1:n.1000C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 995,
          "referenceAllele": "C",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937806.1:n.995C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 995,
          "referenceAllele": "C",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937807.1:n.995C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827475669",
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001349956.1:c.578C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336885.1:p.Ser193Ter",
        "hgvsWellDefined": "NP_001336885.1:p.Ser193_Leu476delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519040"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645498476",
      "coordinates": [
        {
          "allele": "G",
          "end": 837,
          "referenceAllele": "C",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_007194.4:c.779C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009125.1:p.Ser260Ter",
        "hgvsWellDefined": "NP_009125.1:p.Ser260_Leu543delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000404276.6:c.779C>G"
          },
          "RefSeq": {
            "hgvs": "NM_007194.4:c.779C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385747.1:p.Ser260Ter"
          },
          "RefSeq": {
            "hgvs": "NP_009125.1:p.Ser260Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_006724114.3:c.332C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724177.2:p.Ser111Ter",
        "hgvsWellDefined": "XP_006724177.2:p.Ser111_Leu394delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1002,
          "referenceAllele": "C",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529839.2:c.938C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528141.1:p.Ser313Ter",
        "hgvsWellDefined": "XP_011528141.1:p.Ser313_Leu596delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1005,
          "referenceAllele": "C",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529840.3:c.938C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528142.1:p.Ser313Ter",
        "hgvsWellDefined": "XP_011528142.1:p.Ser313_Leu567delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529842.2:c.608C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528144.1:p.Ser203Ter",
        "hgvsWellDefined": "XP_011528144.1:p.Ser203_Leu486delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529844.2:c.938C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528146.1:p.Ser313Ter",
        "hgvsWellDefined": "XP_011528146.1:p.Ser313_Leu409delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnPheSerMetIleLeuGluAsnMetValValCysIleThrAlaTyrGlyPheThrGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529845.2:c.116C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528147.1:p.Ser39Ter",
        "hgvsWellDefined": "XP_011528147.1:p.Ser39_Leu322delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 966,
          "referenceAllele": "C",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_017028560.1:c.902C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884049.1:p.Ser301Ter",
        "hgvsWellDefined": "XP_016884049.1:p.Ser301_Leu584delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578277"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 209,
          "referenceAllele": "C",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_017028561.2:c.116C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884050.1:p.Ser39Ter",
        "hgvsWellDefined": "XP_016884050.1:p.Ser39_Leu322delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578278"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_024452148.1:c.809C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307916.1:p.Ser270Ter",
        "hgvsWellDefined": "XP_024307916.1:p.Ser270_Leu553delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 872,
          "referenceAllele": "C",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_024452149.1:c.809C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307917.1:p.Ser270Ter",
        "hgvsWellDefined": "XP_024307917.1:p.Ser270_Leu524delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937805.2:n.1011C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937806.2:n.1011C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611726"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937807.2:n.1011C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825276967",
      "coordinates": [
        {
          "allele": "G",
          "end": 966,
          "referenceAllele": "C",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001005735.2:c.908C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005735.1:p.Ser303Ter",
        "hgvsWellDefined": "NP_001005735.1:p.Ser303_Leu586delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915982877",
      "coordinates": [
        {
          "allele": "G",
          "end": 951,
          "referenceAllele": "C",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001257387.2:c.116C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244316.1:p.Ser39Ter",
        "hgvsWellDefined": "NP_001244316.1:p.Ser39_Leu322delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680730"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827475669",
      "coordinates": [
        {
          "allele": "G",
          "end": 636,
          "referenceAllele": "C",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001349956.2:c.578C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336885.1:p.Ser193Ter",
        "hgvsWellDefined": "NP_001336885.1:p.Ser193_Leu476delinsAlaArgGluAlaAspProAlaLeuAsnValGluThrGluIleGluIleLeuLysLysLeuAsnHisProCysIleIleLysIleLysAsnPhePheAspAlaGluAspTyrTyrIleValLeuGluLeuMetGluGlyGlyGluLeuPheAspLysValValGlyAsnLysArgLeuLysGluAlaThrCysLysLeuTyrPheTyrGlnMetLeuLeuAlaValGlnTyrLeuHisGluAsnGlyIleIleHisArgAspLeuLysProGluAsnValLeuLeuSerSerGlnGluGluAspCysLeuIleLysIleThrAspPheGlyHisSerLysIleLeuGlyGluThrSerLeuMetArgThrLeuCysGlyThrProThrTyrLeuAlaProGluValLeuValSerValGlyThrAlaGlyTyrAsnArgAlaValAspCysTrpSerLeuGlyValIleLeuPheIleCysLeuSerGlyTyrProProPheSerGluHisArgThrGlnValSerLeuLysAspGlnIleThrSerGlyLysTyrAsnPheIleProGluValTrpAlaGluValSerGluLysAlaLeuAspLeuValLysLysLeuLeuValValAspProLysAlaArgPheThrThrGluGluAlaLeuArgHisProTrpLeuGlnAspGluAspMetLysArgLysPheGlnAspLeuLeuSerGluGluAsnGluSerThrAlaLeuProGlnValLeuAlaGlnProSerThrSerArgLysArgProArgGluGlyGluAlaGluGlyAlaGluThrThrLysArgProAlaValCysAlaAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688142"
    }
  ],
  "type": "nucleotide"
}