{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393756643",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.2255T>C (p.Leu752Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1011677[alleleid]",
        "alleleId": 1011677,
        "preferredName": "NM_002693.3(POLG):c.2255T>C (p.Leu752Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1017643",
        "RCV": [
          "RCV001316822",
          "RCV001796438",
          "RCV002486247"
        ],
        "variationId": 1017643
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89866645A>G?assembly=hg19",
        "id": "chr15:g.89866645A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89323414A>G?assembly=hg38",
        "id": "chr15:g.89323414A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2055426653",
        "rs": 2055426653
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89323414,
          "referenceAllele": "A",
          "start": 89323413
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89323414A>G",
        "CM000677.2:g.89323414A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89866645,
          "referenceAllele": "A",
          "start": 89866644
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89866645A>G",
        "CM000677.1:g.89866645A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 87667649,
          "referenceAllele": "A",
          "start": 87667648
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87667649A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16382,
          "referenceAllele": "T",
          "start": 16381
        }
      ],
      "hgvs": [
        "NG_008218.1:g.16382T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16382,
          "referenceAllele": "T",
          "start": 16381
        }
      ],
      "hgvs": [
        "NG_008218.2:g.16382T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3199,
          "referenceAllele": "T",
          "start": 3198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.2255T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.Leu752Pro",
        "hgvsWellDefined": "ENSP00000516154.1:p.Leu752Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2566,
          "referenceAllele": "T",
          "start": 2565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.2255T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Leu752Pro",
        "hgvsWellDefined": "ENSP00000268124.5:p.Leu752Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.2255T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.2255T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Leu752Pro"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Leu752Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1856,
          "referenceAllele": "T",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.1856T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:p.Leu619Pro",
        "hgvsWellDefined": "ENSP00000432885.2:p.Leu619Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2453,
          "referenceAllele": "T",
          "start": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.2255T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:p.Leu752Pro",
        "hgvsWellDefined": "ENSP00000490653.2:p.Leu752Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2582,
          "referenceAllele": "T",
          "start": 2581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.*822T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:n.*822T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 952,
          "referenceAllele": "T",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637238.1:c.952T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490756.1:n.952T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763718"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1327,
          "referenceAllele": "T",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637264.1:c.1327T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1832,
          "referenceAllele": "T",
          "start": 1831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.1832T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 575,
          "referenceAllele": "T",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000670281.1:c.575T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499709.1:p.Leu192Pro",
        "hgvsWellDefined": "ENSP00000499709.1:p.Leu192Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2453,
          "referenceAllele": "T",
          "start": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.2453T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2358,
          "referenceAllele": "T",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672923.2:n.2358T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2589,
          "referenceAllele": "T",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.2255T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Leu752Pro",
        "hgvsWellDefined": "ENSP00000268124.5:p.Leu752Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2591,
          "referenceAllele": "T",
          "start": 2590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.2255T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.Leu752Pro",
        "hgvsWellDefined": "ENSP00000399851.2:p.Leu752Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 539,
          "endIntronDirection": "+",
          "endIntronOffset": 401,
          "referenceAllele": "T",
          "start": 539,
          "startIntronDirection": "+",
          "startIntronOffset": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000526314.2:c.539+401T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 404,
          "referenceAllele": "T",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000526398.1:c.404T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 24,
          "referenceAllele": "T",
          "start": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000528881.2:c.24T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14,
          "referenceAllele": "T",
          "start": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530715.5:c.14T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431395.1:p.Leu5Pro",
        "hgvsWellDefined": "ENSP00000431395.1:p.Leu5Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355923"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 457,
          "referenceAllele": "T",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000532584.5:n.457T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357496"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2757,
          "referenceAllele": "T",
          "start": 2756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*1679T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*1679T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825621614",
      "coordinates": [
        {
          "allele": "C",
          "end": 2525,
          "referenceAllele": "T",
          "start": 2524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.2255T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Leu752Pro",
        "hgvsWellDefined": "NP_001119603.1:p.Leu752Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499262341",
      "coordinates": [
        {
          "allele": "C",
          "end": 2537,
          "referenceAllele": "T",
          "start": 2536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.2255T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Leu752Pro",
        "hgvsWellDefined": "NP_002684.1:p.Leu752Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825621614",
      "coordinates": [
        {
          "allele": "C",
          "end": 2554,
          "referenceAllele": "T",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.2255T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Leu752Pro",
        "hgvsWellDefined": "NP_001119603.1:p.Leu752Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499262341",
      "coordinates": [
        {
          "allele": "C",
          "end": 2566,
          "referenceAllele": "T",
          "start": 2565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.2255T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Leu752Pro",
        "hgvsWellDefined": "NP_002684.1:p.Leu752Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.2255T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.2255T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Leu752Pro"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Leu752Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}