{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367578983",
  "communityStandardTitle": [
    "NM_005228.5(EGFR):c.2428G>C (p.Gly810Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55249130G>C?assembly=hg19",
        "id": "chr7:g.55249130G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55181437G>C?assembly=hg38",
        "id": "chr7:g.55181437G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913230",
        "rs": 121913230
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 55181437,
          "referenceAllele": "G",
          "start": 55181436
        }
      ],
      "hgvs": [
        "NC_000007.14:g.55181437G>C",
        "CM000669.2:g.55181437G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 55249130,
          "referenceAllele": "G",
          "start": 55249129
        }
      ],
      "hgvs": [
        "NC_000007.13:g.55249130G>C",
        "CM000669.1:g.55249130G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 55216624,
          "referenceAllele": "G",
          "start": 55216623
        }
      ],
      "hgvs": [
        "NC_000007.12:g.55216624G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 167406,
          "referenceAllele": "G",
          "start": 167405
        }
      ],
      "hgvs": [
        "NG_007726.3:g.167406G>C",
        "LRG_304:g.167406G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000672"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2576,
          "referenceAllele": "G",
          "start": 2575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000450046.2:c.2269G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413354.2:p.Gly757Arg",
        "hgvsWellDefined": "ENSP00000413354.2:p.Gly757Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 777,
          "referenceAllele": "G",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000700145.1:c.777G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2689,
          "referenceAllele": "G",
          "start": 2688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.7:c.2428G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Gly810Arg",
        "hgvsWellDefined": "ENSP00000275493.2:p.Gly810Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2428G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2428G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Gly810Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Gly810Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2605,
          "referenceAllele": "G",
          "start": 2604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.6:c.2428G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Gly810Arg",
        "hgvsWellDefined": "ENSP00000275493.2:p.Gly810Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252621"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2162,
          "endIntronDirection": "+",
          "endIntronOffset": 8509,
          "referenceAllele": "G",
          "start": 2162,
          "startIntronDirection": "+",
          "startIntronOffset": 8508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000442591.5:c.*28+8509G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410031.1:n.*28+8509G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2539,
          "referenceAllele": "G",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000454757.6:c.2293G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395243.3:p.Gly765Arg",
        "hgvsWellDefined": "ENSP00000395243.3:p.Gly765Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302708"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2550,
          "referenceAllele": "G",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000455089.5:c.2293G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415559.1:p.Gly765Arg",
        "hgvsWellDefined": "ENSP00000415559.1:p.Gly765Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461629",
      "coordinates": [
        {
          "allele": "C",
          "end": 2674,
          "referenceAllele": "G",
          "start": 2673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.3:c.2428G>C",
        "LRG_304t1:c.2428G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Gly810Arg",
        "hgvsWellDefined": "NP_005219.2:p.Gly810Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1134,
          "referenceAllele": "C",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040207",
      "geneNCBI_id": 100507500,
      "geneSymbol": "EGFR-AS1",
      "hgvs": [
        "NR_047551.1:n.1134C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2550,
          "referenceAllele": "G",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.1:c.2293G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Gly765Arg",
        "hgvsWellDefined": "NP_001333826.1:p.Gly765Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517697"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2685,
          "referenceAllele": "G",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.1:c.2428G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Gly810Arg",
        "hgvsWellDefined": "NP_001333827.1:p.Gly810Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517698"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2550,
          "referenceAllele": "G",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.1:c.2293G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Gly765Arg",
        "hgvsWellDefined": "NP_001333828.1:p.Gly765Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517699"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2482,
          "referenceAllele": "G",
          "start": 2481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.1:c.2269G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Gly757Arg",
        "hgvsWellDefined": "NP_001333829.1:p.Gly757Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1884,
          "referenceAllele": "G",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.1:c.1627G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.Gly543Arg",
        "hgvsWellDefined": "NP_001333870.1:p.Gly543Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461629",
      "coordinates": [
        {
          "allele": "C",
          "end": 2685,
          "referenceAllele": "G",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.4:c.2428G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Gly810Arg",
        "hgvsWellDefined": "NP_005219.2:p.Gly810Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461629",
      "coordinates": [
        {
          "allele": "C",
          "end": 2689,
          "referenceAllele": "G",
          "start": 2688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.5:c.2428G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Gly810Arg",
        "hgvsWellDefined": "NP_005219.2:p.Gly810Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2428G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2428G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Gly810Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Gly810Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.2:c.2293G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Gly765Arg",
        "hgvsWellDefined": "NP_001333826.1:p.Gly765Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2689,
          "referenceAllele": "G",
          "start": 2688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.2:c.2428G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Gly810Arg",
        "hgvsWellDefined": "NP_001333827.1:p.Gly810Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2460,
          "referenceAllele": "G",
          "start": 2459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.2:c.2269G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Gly757Arg",
        "hgvsWellDefined": "NP_001333829.1:p.Gly757Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687444"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1888,
          "referenceAllele": "G",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.2:c.1627G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.Gly543Arg",
        "hgvsWellDefined": "NP_001333870.1:p.Gly543Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.2:c.2293G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Gly765Arg",
        "hgvsWellDefined": "NP_001333828.1:p.Gly765Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719000"
    }
  ],
  "type": "nucleotide"
}