{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA135840",
  "communityStandardTitle": [
    "NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6241",
        "active": true,
        "id": "COSM6241"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=54418[alleleid]",
        "alleleId": 54418,
        "preferredName": "NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45251",
        "RCV": [
          "RCV000038407",
          "RCV000435248",
          "RCV000428042"
        ],
        "variationId": 45251
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55249005G>T?assembly=hg19",
        "id": "chr7:g.55249005G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55181312G>T?assembly=hg38",
        "id": "chr7:g.55181312G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913465",
        "rs": 121913465
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 55181312,
          "referenceAllele": "G",
          "start": 55181311
        }
      ],
      "hgvs": [
        "NC_000007.14:g.55181312G>T",
        "CM000669.2:g.55181312G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 55249005,
          "referenceAllele": "G",
          "start": 55249004
        }
      ],
      "hgvs": [
        "NC_000007.13:g.55249005G>T",
        "CM000669.1:g.55249005G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 55216499,
          "referenceAllele": "G",
          "start": 55216498
        }
      ],
      "hgvs": [
        "NC_000007.12:g.55216499G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 167281,
          "referenceAllele": "G",
          "start": 167280
        }
      ],
      "hgvs": [
        "NG_007726.3:g.167281G>T",
        "LRG_304:g.167281G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000672"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2451,
          "referenceAllele": "G",
          "start": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000450046.2:c.2144G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413354.2:p.Ser715Ile",
        "hgvsWellDefined": "ENSP00000413354.2:p.Ser715Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000700145.1:c.652G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2564,
          "referenceAllele": "G",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.7:c.2303G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Ser768Ile",
        "hgvsWellDefined": "ENSP00000275493.2:p.Ser768Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2303G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2303G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Ser768Ile"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Ser768Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2480,
          "referenceAllele": "G",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.6:c.2303G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Ser768Ile",
        "hgvsWellDefined": "ENSP00000275493.2:p.Ser768Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2162,
          "endIntronDirection": "+",
          "endIntronOffset": 8384,
          "referenceAllele": "G",
          "start": 2162,
          "startIntronDirection": "+",
          "startIntronOffset": 8383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000442591.5:c.*28+8384G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410031.1:n.*28+8384G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2414,
          "referenceAllele": "G",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000454757.6:c.2168G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395243.3:p.Ser723Ile",
        "hgvsWellDefined": "ENSP00000395243.3:p.Ser723Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2425,
          "referenceAllele": "G",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000455089.5:c.2168G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415559.1:p.Ser723Ile",
        "hgvsWellDefined": "ENSP00000415559.1:p.Ser723Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA135842",
      "coordinates": [
        {
          "allele": "T",
          "end": 2549,
          "referenceAllele": "G",
          "start": 2548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.3:c.2303G>T",
        "LRG_304t1:c.2303G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Ser768Ile",
        "hgvsWellDefined": "NP_005219.2:p.Ser768Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040207",
      "geneNCBI_id": 100507500,
      "geneSymbol": "EGFR-AS1",
      "hgvs": [
        "NR_047551.1:n.1259C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827388065",
      "coordinates": [
        {
          "allele": "T",
          "end": 2425,
          "referenceAllele": "G",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.1:c.2168G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Ser723Ile",
        "hgvsWellDefined": "NP_001333826.1:p.Ser723Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517697"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827389888",
      "coordinates": [
        {
          "allele": "T",
          "end": 2560,
          "referenceAllele": "G",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.1:c.2303G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Ser768Ile",
        "hgvsWellDefined": "NP_001333827.1:p.Ser768Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827391621",
      "coordinates": [
        {
          "allele": "T",
          "end": 2425,
          "referenceAllele": "G",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.1:c.2168G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Ser723Ile",
        "hgvsWellDefined": "NP_001333828.1:p.Ser723Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827393397",
      "coordinates": [
        {
          "allele": "T",
          "end": 2357,
          "referenceAllele": "G",
          "start": 2356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.1:c.2144G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Ser715Ile",
        "hgvsWellDefined": "NP_001333829.1:p.Ser715Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827395258",
      "coordinates": [
        {
          "allele": "T",
          "end": 1759,
          "referenceAllele": "G",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.1:c.1502G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.Ser501Ile",
        "hgvsWellDefined": "NP_001333870.1:p.Ser501Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA135842",
      "coordinates": [
        {
          "allele": "T",
          "end": 2560,
          "referenceAllele": "G",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.4:c.2303G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Ser768Ile",
        "hgvsWellDefined": "NP_005219.2:p.Ser768Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA135842",
      "coordinates": [
        {
          "allele": "T",
          "end": 2564,
          "referenceAllele": "G",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.5:c.2303G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Ser768Ile",
        "hgvsWellDefined": "NP_005219.2:p.Ser768Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2303G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2303G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Ser768Ile"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Ser768Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827388065",
      "coordinates": [
        {
          "allele": "T",
          "end": 2429,
          "referenceAllele": "G",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.2:c.2168G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Ser723Ile",
        "hgvsWellDefined": "NP_001333826.1:p.Ser723Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827389888",
      "coordinates": [
        {
          "allele": "T",
          "end": 2564,
          "referenceAllele": "G",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.2:c.2303G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Ser768Ile",
        "hgvsWellDefined": "NP_001333827.1:p.Ser768Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687443"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827393397",
      "coordinates": [
        {
          "allele": "T",
          "end": 2335,
          "referenceAllele": "G",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.2:c.2144G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Ser715Ile",
        "hgvsWellDefined": "NP_001333829.1:p.Ser715Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827395258",
      "coordinates": [
        {
          "allele": "T",
          "end": 1763,
          "referenceAllele": "G",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.2:c.1502G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.Ser501Ile",
        "hgvsWellDefined": "NP_001333870.1:p.Ser501Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827391621",
      "coordinates": [
        {
          "allele": "T",
          "end": 2429,
          "referenceAllele": "G",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.2:c.2168G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Ser723Ile",
        "hgvsWellDefined": "NP_001333828.1:p.Ser723Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719000"
    }
  ],
  "type": "nucleotide"
}