{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2194555252",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.2243G= (p.Trp748=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113994097",
        "rs": 113994097
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 89323426,
          "referenceAllele": "C",
          "start": 89323425
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89323426C=",
        "CM000677.2:g.89323426C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 89866657,
          "referenceAllele": "C",
          "start": 89866656
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89866657C=",
        "CM000677.1:g.89866657C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 87667661,
          "referenceAllele": "C",
          "start": 87667660
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87667661C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16370,
          "referenceAllele": "G",
          "start": 16369
        }
      ],
      "hgvs": [
        "NG_008218.1:g.16370G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16370,
          "referenceAllele": "G",
          "start": 16369
        }
      ],
      "hgvs": [
        "NG_008218.2:g.16370G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3187,
          "referenceAllele": "G",
          "start": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.2243G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.Trp748="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.2243G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Trp748="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.2243G="
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.2243G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Trp748="
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Trp748="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1844,
          "referenceAllele": "G",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.1844G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:p.Trp615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2441,
          "referenceAllele": "G",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.2243G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:p.Trp748="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2570,
          "referenceAllele": "G",
          "start": 2569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.*810G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:n.*810G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 940,
          "referenceAllele": "G",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637238.1:c.940G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490756.1:n.940G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1315,
          "referenceAllele": "G",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637264.1:c.1315G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1820,
          "referenceAllele": "G",
          "start": 1819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.1820G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 563,
          "referenceAllele": "G",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000670281.1:c.563G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499709.1:p.Trp188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2441,
          "referenceAllele": "G",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.2441G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2346,
          "referenceAllele": "G",
          "start": 2345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672923.2:n.2346G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2577,
          "referenceAllele": "G",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.2243G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Trp748="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2579,
          "referenceAllele": "G",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.2243G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.Trp748="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 539,
          "endIntronDirection": "+",
          "endIntronOffset": 389,
          "referenceAllele": "G",
          "start": 539,
          "startIntronDirection": "+",
          "startIntronOffset": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000526314.2:c.539+389G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 392,
          "referenceAllele": "G",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000526398.1:c.392G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12,
          "referenceAllele": "G",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000528881.2:c.12G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2,
          "referenceAllele": "G",
          "start": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530715.5:c.2G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431395.1:p.Trp1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355923"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "referenceAllele": "G",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000532584.5:n.445G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2745,
          "referenceAllele": "G",
          "start": 2744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*1667G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*1667G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.2243G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Trp748="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081918468",
      "coordinates": [
        {
          "allele": "G",
          "end": 2525,
          "referenceAllele": "G",
          "start": 2524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.2243G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Trp748="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2542,
          "referenceAllele": "G",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.2243G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Trp748="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081918468",
      "coordinates": [
        {
          "allele": "G",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.2243G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Trp748="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.2243G="
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.2243G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Trp748="
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Trp748="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}