{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15336324",
  "communityStandardTitle": [
    "NM_001963.6(EGF):c.2734+2042T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.110911907T>C?assembly=hg19",
        "id": "chr4:g.110911907T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.109990751T>C?assembly=hg38",
        "id": "chr4:g.109990751T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2298999",
        "rs": 2298999
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-110911907-T-C?dataset=gnomad_r2_1",
        "id": "4-110911907-T-C",
        "variant": "4:110911907 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-109990751-T-C?dataset=gnomad_r3",
        "id": "4-109990751-T-C",
        "variant": "4:109990751 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-109990751-T-C?dataset=gnomad_r4",
        "id": "4-109990751-T-C",
        "variant": "4:109990751 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 109990751,
          "referenceAllele": "T",
          "start": 109990750
        }
      ],
      "hgvs": [
        "NC_000004.12:g.109990751T>C",
        "CM000666.2:g.109990751T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 110911907,
          "referenceAllele": "T",
          "start": 110911906
        }
      ],
      "hgvs": [
        "NC_000004.11:g.110911907T>C",
        "CM000666.1:g.110911907T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 111131356,
          "referenceAllele": "T",
          "start": 111131355
        }
      ],
      "hgvs": [
        "NC_000004.10:g.111131356T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 82868,
          "referenceAllele": "T",
          "start": 82867
        }
      ],
      "hgvs": [
        "NG_011441.1:g.82868T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 82868,
          "referenceAllele": "T",
          "start": 82867
        }
      ],
      "hgvs": [
        "NG_011441.2:g.82868T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673537"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3187,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3187,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000265171.10:c.2734+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265171.5:n.2734+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265171.10:c.2734+2042T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001963.6:c.2734+2042T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265171.5:n.2734+2042T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001954.2:n.2734+2042T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2812,
          "endIntronDirection": "-",
          "endIntronOffset": 2495,
          "referenceAllele": "T",
          "start": 2812,
          "startIntronDirection": "-",
          "startIntronOffset": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000652245.1:c.2366-2496T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498337.1:n.2366-2496T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3179,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3179,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000265171.9:c.2734+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265171.5:n.2734+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2829,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 2829,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000503392.1:c.2734+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421384.1:n.2734+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335715"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3060,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3060,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000509793.5:c.2608+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424316.1:n.2608+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 419,
          "endIntronDirection": "-",
          "endIntronOffset": 2495,
          "referenceAllele": "T",
          "start": 419,
          "startIntronDirection": "-",
          "startIntronOffset": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000509996.1:n.420-2496T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3186,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3186,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178130.1:c.2734+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171601.1:n.2734+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3060,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3060,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178131.1:c.2608+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171602.1:n.2608+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3186,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3186,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001963.4:c.2734+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001954.2:n.2734+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027289"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3187,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3187,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_005262796.2:c.2734+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262853.1:n.2734+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3061,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3061,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_005262797.2:c.2608+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262854.1:n.2608+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2944,
          "endIntronDirection": "-",
          "endIntronOffset": 2495,
          "referenceAllele": "T",
          "start": 2944,
          "startIntronDirection": "-",
          "startIntronOffset": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_005262798.2:c.2492-2496T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262855.1:n.2492-2496T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2944,
          "endIntronDirection": "-",
          "endIntronOffset": 2495,
          "referenceAllele": "T",
          "start": 2944,
          "startIntronDirection": "-",
          "startIntronOffset": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_005262800.2:c.2492-2496T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262857.1:n.2492-2496T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063571"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2944,
          "endIntronDirection": "+",
          "endIntronOffset": 7210,
          "referenceAllele": "T",
          "start": 2944,
          "startIntronDirection": "+",
          "startIntronOffset": 7209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_005262801.2:c.2491+7210T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262858.1:n.2491+7210T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063572"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3187,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3187,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_006714124.2:c.2734+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714187.1:n.2734+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2836,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 2836,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_011531707.1:c.2623+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530009.1:n.2623+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3187,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3187,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_011531708.1:c.2734+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530010.1:n.2734+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3187,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3187,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XR_427532.2:n.3187+2042T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117766"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3187,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3187,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XR_938699.1:n.3187+2042T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133397"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3186,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3186,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178130.2:c.2734+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171601.1:n.2734+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3060,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3060,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178131.2:c.2608+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171602.1:n.2608+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2817,
          "endIntronDirection": "-",
          "endIntronOffset": 2495,
          "referenceAllele": "T",
          "start": 2817,
          "startIntronDirection": "-",
          "startIntronOffset": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001357021.1:c.2366-2496T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001343950.1:n.2366-2496T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522930"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3186,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3186,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001963.5:c.2734+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001954.2:n.2734+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3211,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007845.1:c.2758+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863334.1:n.2758+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3211,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007846.1:c.2758+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863335.1:n.2758+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3211,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007847.1:c.2758+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863336.1:n.2758+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562504"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3085,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3085,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007848.1:c.2632+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863337.1:n.2632+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2968,
          "endIntronDirection": "-",
          "endIntronOffset": 2495,
          "referenceAllele": "T",
          "start": 2968,
          "startIntronDirection": "-",
          "startIntronOffset": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007849.1:c.2516-2496T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863338.1:n.2516-2496T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3211,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007850.1:c.2758+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863339.1:n.2758+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562507"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2968,
          "endIntronDirection": "-",
          "endIntronOffset": 2495,
          "referenceAllele": "T",
          "start": 2968,
          "startIntronDirection": "-",
          "startIntronOffset": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007851.1:c.2516-2496T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863340.1:n.2516-2496T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3211,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007853.1:c.2758+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863342.1:n.2758+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3211,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XR_001741156.1:n.3211+2042T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3211,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XR_001741157.1:n.3211+2042T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3187,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3187,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178130.3:c.2734+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171601.1:n.2734+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678954"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3061,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3061,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178131.3:c.2608+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171602.1:n.2608+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2818,
          "endIntronDirection": "-",
          "endIntronOffset": 2495,
          "referenceAllele": "T",
          "start": 2818,
          "startIntronDirection": "-",
          "startIntronOffset": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001357021.2:c.2366-2496T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001343950.1:n.2366-2496T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3187,
          "endIntronDirection": "+",
          "endIntronOffset": 2042,
          "referenceAllele": "T",
          "start": 3187,
          "startIntronDirection": "+",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001963.6:c.2734+2042T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001954.2:n.2734+2042T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695412",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265171.10:c.2734+2042T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001963.6:c.2734+2042T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265171.5:n.2734+2042T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001954.2:n.2734+2042T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}