{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367578985",
  "communityStandardTitle": [
    "NM_005228.5(EGFR):c.2429G>T (p.Gly810Val)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55249131G>T?assembly=hg19",
        "id": "chr7:g.55249131G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55181438G>T?assembly=hg38",
        "id": "chr7:g.55181438G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913431",
        "rs": 121913431
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 55181438,
          "referenceAllele": "G",
          "start": 55181437
        }
      ],
      "hgvs": [
        "NC_000007.14:g.55181438G>T",
        "CM000669.2:g.55181438G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 55249131,
          "referenceAllele": "G",
          "start": 55249130
        }
      ],
      "hgvs": [
        "NC_000007.13:g.55249131G>T",
        "CM000669.1:g.55249131G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 55216625,
          "referenceAllele": "G",
          "start": 55216624
        }
      ],
      "hgvs": [
        "NC_000007.12:g.55216625G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 167407,
          "referenceAllele": "G",
          "start": 167406
        }
      ],
      "hgvs": [
        "NG_007726.3:g.167407G>T",
        "LRG_304:g.167407G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000672"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2577,
          "referenceAllele": "G",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000450046.2:c.2270G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413354.2:p.Gly757Val",
        "hgvsWellDefined": "ENSP00000413354.2:p.Gly757Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000700145.1:c.778G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2690,
          "referenceAllele": "G",
          "start": 2689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.7:c.2429G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Gly810Val",
        "hgvsWellDefined": "ENSP00000275493.2:p.Gly810Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2429G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2429G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Gly810Val"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Gly810Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2606,
          "referenceAllele": "G",
          "start": 2605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.6:c.2429G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Gly810Val",
        "hgvsWellDefined": "ENSP00000275493.2:p.Gly810Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2162,
          "endIntronDirection": "+",
          "endIntronOffset": 8510,
          "referenceAllele": "G",
          "start": 2162,
          "startIntronDirection": "+",
          "startIntronOffset": 8509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000442591.5:c.*28+8510G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410031.1:n.*28+8510G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2540,
          "referenceAllele": "G",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000454757.6:c.2294G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395243.3:p.Gly765Val",
        "hgvsWellDefined": "ENSP00000395243.3:p.Gly765Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2551,
          "referenceAllele": "G",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000455089.5:c.2294G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415559.1:p.Gly765Val",
        "hgvsWellDefined": "ENSP00000415559.1:p.Gly765Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461632",
      "coordinates": [
        {
          "allele": "T",
          "end": 2675,
          "referenceAllele": "G",
          "start": 2674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.3:c.2429G>T",
        "LRG_304t1:c.2429G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Gly810Val",
        "hgvsWellDefined": "NP_005219.2:p.Gly810Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "C",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040207",
      "geneNCBI_id": 100507500,
      "geneSymbol": "EGFR-AS1",
      "hgvs": [
        "NR_047551.1:n.1133C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2551,
          "referenceAllele": "G",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.1:c.2294G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Gly765Val",
        "hgvsWellDefined": "NP_001333826.1:p.Gly765Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2686,
          "referenceAllele": "G",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.1:c.2429G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Gly810Val",
        "hgvsWellDefined": "NP_001333827.1:p.Gly810Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2551,
          "referenceAllele": "G",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.1:c.2294G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Gly765Val",
        "hgvsWellDefined": "NP_001333828.1:p.Gly765Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2483,
          "referenceAllele": "G",
          "start": 2482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.1:c.2270G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Gly757Val",
        "hgvsWellDefined": "NP_001333829.1:p.Gly757Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.1:c.1628G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.Gly543Val",
        "hgvsWellDefined": "NP_001333870.1:p.Gly543Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461632",
      "coordinates": [
        {
          "allele": "T",
          "end": 2686,
          "referenceAllele": "G",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.4:c.2429G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Gly810Val",
        "hgvsWellDefined": "NP_005219.2:p.Gly810Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461632",
      "coordinates": [
        {
          "allele": "T",
          "end": 2690,
          "referenceAllele": "G",
          "start": 2689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.5:c.2429G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Gly810Val",
        "hgvsWellDefined": "NP_005219.2:p.Gly810Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2429G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2429G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Gly810Val"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Gly810Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2555,
          "referenceAllele": "G",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.2:c.2294G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Gly765Val",
        "hgvsWellDefined": "NP_001333826.1:p.Gly765Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2690,
          "referenceAllele": "G",
          "start": 2689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.2:c.2429G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Gly810Val",
        "hgvsWellDefined": "NP_001333827.1:p.Gly810Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687443"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2461,
          "referenceAllele": "G",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.2:c.2270G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Gly757Val",
        "hgvsWellDefined": "NP_001333829.1:p.Gly757Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1889,
          "referenceAllele": "G",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.2:c.1628G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.Gly543Val",
        "hgvsWellDefined": "NP_001333870.1:p.Gly543Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2555,
          "referenceAllele": "G",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.2:c.2294G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Gly765Val",
        "hgvsWellDefined": "NP_001333828.1:p.Gly765Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719000"
    }
  ],
  "type": "nucleotide"
}