{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3149798889",
  "communityStandardTitle": [
    "NM_005228.5(EGFR):c.2498T= (p.Leu833=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2128964425",
        "rs": 2128964425
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 55191747,
          "referenceAllele": "T",
          "start": 55191746
        }
      ],
      "hgvs": [
        "NC_000007.14:g.55191747T=",
        "CM000669.2:g.55191747T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 55259440,
          "referenceAllele": "T",
          "start": 55259439
        }
      ],
      "hgvs": [
        "NC_000007.13:g.55259440T=",
        "CM000669.1:g.55259440T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 55226934,
          "referenceAllele": "T",
          "start": 55226933
        }
      ],
      "hgvs": [
        "NC_000007.12:g.55226934T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 177716,
          "referenceAllele": "T",
          "start": 177715
        }
      ],
      "hgvs": [
        "NG_007726.3:g.177716T=",
        "LRG_304:g.177716T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000672"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2646,
          "referenceAllele": "T",
          "start": 2645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000450046.2:c.2339T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413354.2:p.Leu780="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "referenceAllele": "T",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000700145.1:c.847T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2759,
          "referenceAllele": "T",
          "start": 2758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.7:c.2498T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Leu833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2498T="
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2498T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Leu833="
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Leu833="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2675,
          "referenceAllele": "T",
          "start": 2674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.6:c.2498T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Leu833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2162,
          "endIntronDirection": "+",
          "endIntronOffset": 18819,
          "referenceAllele": "T",
          "start": 2162,
          "startIntronDirection": "+",
          "startIntronOffset": 18818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000442591.5:c.*28+18819T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410031.1:n.*28+18819T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2609,
          "referenceAllele": "T",
          "start": 2608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000454757.6:c.2363T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395243.3:p.Leu788="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2620,
          "referenceAllele": "T",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000455089.5:c.2363T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415559.1:p.Leu788="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073559587",
      "coordinates": [
        {
          "allele": "T",
          "end": 2744,
          "referenceAllele": "T",
          "start": 2743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.3:c.2498T=",
        "LRG_304t1:c.2498T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Leu833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2620,
          "referenceAllele": "T",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.1:c.2363T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Leu788="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2755,
          "referenceAllele": "T",
          "start": 2754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.1:c.2498T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Leu833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2620,
          "referenceAllele": "T",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.1:c.2363T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Leu788="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2552,
          "referenceAllele": "T",
          "start": 2551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.1:c.2339T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Leu780="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1954,
          "referenceAllele": "T",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.1:c.1697T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.Leu566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073559587",
      "coordinates": [
        {
          "allele": "T",
          "end": 2755,
          "referenceAllele": "T",
          "start": 2754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.4:c.2498T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Leu833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073559587",
      "coordinates": [
        {
          "allele": "T",
          "end": 2759,
          "referenceAllele": "T",
          "start": 2758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.5:c.2498T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Leu833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2498T="
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2498T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Leu833="
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Leu833="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2624,
          "referenceAllele": "T",
          "start": 2623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.2:c.2363T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Leu788="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2759,
          "referenceAllele": "T",
          "start": 2758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.2:c.2498T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Leu833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687443"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2530,
          "referenceAllele": "T",
          "start": 2529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.2:c.2339T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Leu780="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1958,
          "referenceAllele": "T",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.2:c.1697T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.Leu566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2624,
          "referenceAllele": "T",
          "start": 2623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.2:c.2363T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Leu788="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719000"
    }
  ],
  "type": "nucleotide"
}