{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367578749",
  "communityStandardTitle": [
    "NM_005228.5(EGFR):c.2326C>T (p.Arg776Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6226",
        "active": true,
        "id": "COSM6226"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1460250[alleleid]",
        "alleleId": 1460250,
        "preferredName": "NM_005228.5(EGFR):c.2326C>T (p.Arg776Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1523057",
        "RCV": [
          "RCV002036476",
          "RCV004011175"
        ],
        "variationId": 1523057
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55249028C>T?assembly=hg19",
        "id": "chr7:g.55249028C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55181335C>T?assembly=hg38",
        "id": "chr7:g.55181335C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1275022697",
        "rs": 1275022697
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-55181335-C-T?dataset=gnomad_r3",
        "id": "7-55181335-C-T",
        "variant": "7:55181335 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-55181335-C-T?dataset=gnomad_r4",
        "id": "7-55181335-C-T",
        "variant": "7:55181335 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 55181335,
          "referenceAllele": "C",
          "start": 55181334
        }
      ],
      "hgvs": [
        "NC_000007.14:g.55181335C>T",
        "CM000669.2:g.55181335C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 55249028,
          "referenceAllele": "C",
          "start": 55249027
        }
      ],
      "hgvs": [
        "NC_000007.13:g.55249028C>T",
        "CM000669.1:g.55249028C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 55216522,
          "referenceAllele": "C",
          "start": 55216521
        }
      ],
      "hgvs": [
        "NC_000007.12:g.55216522C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 167304,
          "referenceAllele": "C",
          "start": 167303
        }
      ],
      "hgvs": [
        "NG_007726.3:g.167304C>T",
        "LRG_304:g.167304C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000672"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2474,
          "referenceAllele": "C",
          "start": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000450046.2:c.2167C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413354.2:p.Arg723Cys",
        "hgvsWellDefined": "ENSP00000413354.2:p.Arg723Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 675,
          "referenceAllele": "C",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000700145.1:c.675C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2587,
          "referenceAllele": "C",
          "start": 2586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.7:c.2326C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Arg776Cys",
        "hgvsWellDefined": "ENSP00000275493.2:p.Arg776Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2326C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2326C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Arg776Cys"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Arg776Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2503,
          "referenceAllele": "C",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.6:c.2326C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Arg776Cys",
        "hgvsWellDefined": "ENSP00000275493.2:p.Arg776Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2162,
          "endIntronDirection": "+",
          "endIntronOffset": 8407,
          "referenceAllele": "C",
          "start": 2162,
          "startIntronDirection": "+",
          "startIntronOffset": 8406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000442591.5:c.*28+8407C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410031.1:n.*28+8407C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2437,
          "referenceAllele": "C",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000454757.6:c.2191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395243.3:p.Arg731Cys",
        "hgvsWellDefined": "ENSP00000395243.3:p.Arg731Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2448,
          "referenceAllele": "C",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000455089.5:c.2191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415559.1:p.Arg731Cys",
        "hgvsWellDefined": "ENSP00000415559.1:p.Arg731Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573248572",
      "coordinates": [
        {
          "allele": "T",
          "end": 2572,
          "referenceAllele": "C",
          "start": 2571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.3:c.2326C>T",
        "LRG_304t1:c.2326C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Arg776Cys",
        "hgvsWellDefined": "NP_005219.2:p.Arg776Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1236,
          "referenceAllele": "G",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040207",
      "geneNCBI_id": 100507500,
      "geneSymbol": "EGFR-AS1",
      "hgvs": [
        "NR_047551.1:n.1236G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827388103",
      "coordinates": [
        {
          "allele": "T",
          "end": 2448,
          "referenceAllele": "C",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.1:c.2191C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Arg731Cys",
        "hgvsWellDefined": "NP_001333826.1:p.Arg731Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517697"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827389929",
      "coordinates": [
        {
          "allele": "T",
          "end": 2583,
          "referenceAllele": "C",
          "start": 2582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.1:c.2326C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Arg776Cys",
        "hgvsWellDefined": "NP_001333827.1:p.Arg776Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827391664",
      "coordinates": [
        {
          "allele": "T",
          "end": 2448,
          "referenceAllele": "C",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.1:c.2191C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Arg731Cys",
        "hgvsWellDefined": "NP_001333828.1:p.Arg731Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827393441",
      "coordinates": [
        {
          "allele": "T",
          "end": 2380,
          "referenceAllele": "C",
          "start": 2379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.1:c.2167C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Arg723Cys",
        "hgvsWellDefined": "NP_001333829.1:p.Arg723Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827395303",
      "coordinates": [
        {
          "allele": "T",
          "end": 1782,
          "referenceAllele": "C",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.1:c.1525C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.Arg509Cys",
        "hgvsWellDefined": "NP_001333870.1:p.Arg509Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573248572",
      "coordinates": [
        {
          "allele": "T",
          "end": 2583,
          "referenceAllele": "C",
          "start": 2582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.4:c.2326C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Arg776Cys",
        "hgvsWellDefined": "NP_005219.2:p.Arg776Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573248572",
      "coordinates": [
        {
          "allele": "T",
          "end": 2587,
          "referenceAllele": "C",
          "start": 2586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.5:c.2326C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Arg776Cys",
        "hgvsWellDefined": "NP_005219.2:p.Arg776Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2326C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2326C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Arg776Cys"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Arg776Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827388103",
      "coordinates": [
        {
          "allele": "T",
          "end": 2452,
          "referenceAllele": "C",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.2:c.2191C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Arg731Cys",
        "hgvsWellDefined": "NP_001333826.1:p.Arg731Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827389929",
      "coordinates": [
        {
          "allele": "T",
          "end": 2587,
          "referenceAllele": "C",
          "start": 2586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.2:c.2326C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Arg776Cys",
        "hgvsWellDefined": "NP_001333827.1:p.Arg776Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687443"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827393441",
      "coordinates": [
        {
          "allele": "T",
          "end": 2358,
          "referenceAllele": "C",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.2:c.2167C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Arg723Cys",
        "hgvsWellDefined": "NP_001333829.1:p.Arg723Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827395303",
      "coordinates": [
        {
          "allele": "T",
          "end": 1786,
          "referenceAllele": "C",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.2:c.1525C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.Arg509Cys",
        "hgvsWellDefined": "NP_001333870.1:p.Arg509Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827391664",
      "coordinates": [
        {
          "allele": "T",
          "end": 2452,
          "referenceAllele": "C",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.2:c.2191C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Arg731Cys",
        "hgvsWellDefined": "NP_001333828.1:p.Arg731Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719000"
    }
  ],
  "type": "nucleotide"
}