{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393749637",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.3482+2T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1451429[alleleid]",
        "alleleId": 1451429,
        "preferredName": "NM_002693.3(POLG):c.3482+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1453904",
        "RCV": [
          "RCV001939367"
        ],
        "variationId": 1453904
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89861770A>G?assembly=hg19",
        "id": "chr15:g.89861770A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89318539A>G?assembly=hg38",
        "id": "chr15:g.89318539A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1466226819",
        "rs": 1466226819
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89861770-A-G?dataset=gnomad_r2_1",
        "id": "15-89861770-A-G",
        "variant": "15:89861770 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89318539-A-G?dataset=gnomad_r4",
        "id": "15-89318539-A-G",
        "variant": "15:89318539 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89318539,
          "referenceAllele": "A",
          "start": 89318538
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89318539A>G",
        "CM000677.2:g.89318539A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89861770,
          "referenceAllele": "A",
          "start": 89861769
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89861770A>G",
        "CM000677.1:g.89861770A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 87662774,
          "referenceAllele": "A",
          "start": 87662773
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87662774A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21257,
          "referenceAllele": "T",
          "start": 21256
        }
      ],
      "hgvs": [
        "NG_008218.1:g.21257T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 79577,
          "referenceAllele": "A",
          "start": 79576
        }
      ],
      "hgvs": [
        "NG_011736.1:g.79577A>G",
        "LRG_500:g.79577A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21257,
          "referenceAllele": "T",
          "start": 21256
        }
      ],
      "hgvs": [
        "NG_008218.2:g.21257T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4426,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4426,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.3482+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:n.3482+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3793,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3793,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.3482+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:n.3482+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.3482+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.3482+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:n.3482+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:n.3482+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3083,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3083,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.3083+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:n.3083+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3738,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3738,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.*552+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:n.*552+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3809,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3809,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.*2049+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:n.*2049+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2291,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2291,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637238.1:c.2291+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490756.1:n.2291+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763718"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2554,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2554,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637264.1:c.2554+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3059,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3059,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.3059+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3682,
          "referenceAllele": "T",
          "start": 3681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.3682T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 661,
          "referenceAllele": "T",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672695.1:n.661T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3482,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3482,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672923.2:n.3482+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3816,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3816,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.3482+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:n.3482+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3818,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3818,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.3482+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:n.3482+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.2:c.566+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.1:n.566+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3984,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3984,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*2906+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*2906+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3752,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3752,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.3482+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:n.3482+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3764,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3764,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.3482+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:n.3482+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3781,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3781,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.3482+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:n.3482+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3793,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3793,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.3482+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:n.3482+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.3482+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.3482+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:n.3482+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:n.3482+2T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}