{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393757928",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.1950-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1367228[alleleid]",
        "alleleId": 1367228,
        "preferredName": "NM_002693.3(POLG):c.1950-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1481710",
        "RCV": [
          "RCV002000611"
        ],
        "variationId": 1481710
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89867460T>C?assembly=hg19",
        "id": "chr15:g.89867460T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89324229T>C?assembly=hg38",
        "id": "chr15:g.89324229T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2152063472",
        "rs": 2152063472
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 89324229,
          "referenceAllele": "T",
          "start": 89324228
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89324229T>C",
        "CM000677.2:g.89324229T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 89867460,
          "referenceAllele": "T",
          "start": 89867459
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89867460T>C",
        "CM000677.1:g.89867460T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 87668464,
          "referenceAllele": "T",
          "start": 87668463
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87668464T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15567,
          "referenceAllele": "A",
          "start": 15566
        }
      ],
      "hgvs": [
        "NG_008218.1:g.15567A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15567,
          "referenceAllele": "A",
          "start": 15566
        }
      ],
      "hgvs": [
        "NG_008218.2:g.15567A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2893,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2893,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.1950-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:n.1950-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2260,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2260,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.1950-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:n.1950-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.1950-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.1950-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:n.1950-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:n.1950-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1550,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1550,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.1551-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:n.1551-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2147,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2147,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.1950-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:n.1950-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2276,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2276,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.*517-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:n.*517-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 646,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637238.1:c.647-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490756.1:n.647-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1021,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1021,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637264.1:c.1022-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1526,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1526,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.1527-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 269,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 269,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000670281.1:c.270-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499709.1:n.270-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2147,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2147,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.2148-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2052,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2052,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672923.2:n.2053-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2283,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2283,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.1950-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:n.1950-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2285,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2285,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.1950-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:n.1950-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 331,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000526314.2:c.332-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 138,
          "endIntronDirection": "-",
          "endIntronOffset": 41,
          "referenceAllele": "A",
          "start": 138,
          "startIntronDirection": "-",
          "startIntronOffset": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000526398.1:c.139-42A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 35,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000526573.1:n.36-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352418"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 151,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 151,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000532584.5:n.152-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63,
          "referenceAllele": "A",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000533857.1:n.63A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358565"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2410,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2410,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*1333-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*1333-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2219,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2219,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.1950-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:n.1950-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2231,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2231,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.1950-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:n.1950-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2248,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2248,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.1950-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:n.1950-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2260,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2260,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.1950-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:n.1950-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.1950-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.1950-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:n.1950-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:n.1950-2A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}