{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2340886926",
  "communityStandardTitle": [
    "NM_002691.4(POLD1):c.2066G= (p.Arg689=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146530638",
        "rs": 146530638
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 50409578,
          "referenceAllele": "G",
          "start": 50409577
        }
      ],
      "hgvs": [
        "NC_000019.10:g.50409578G=",
        "CM000681.2:g.50409578G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 50912835,
          "referenceAllele": "G",
          "start": 50912834
        }
      ],
      "hgvs": [
        "NC_000019.9:g.50912835G=",
        "CM000681.1:g.50912835G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 55604647,
          "referenceAllele": "G",
          "start": 55604646
        }
      ],
      "hgvs": [
        "NC_000019.8:g.55604647G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30256,
          "referenceAllele": "G",
          "start": 30255
        }
      ],
      "hgvs": [
        "NG_033800.1:g.30256G=",
        "LRG_785:g.30256G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2445,
          "referenceAllele": "G",
          "start": 2444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000593887.2:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472607.2:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2257,
          "referenceAllele": "G",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000600746.2:n.2257G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2144,
          "referenceAllele": "G",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000644560.2:c.2144G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495618.2:p.Arg715="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2130,
          "referenceAllele": "G",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000687454.1:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510052.1:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2111,
          "referenceAllele": "G",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000440232.7:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406046.1:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440232.7:c.2066G="
          },
          "RefSeq": {
            "hgvs": "NM_002691.4:c.2066G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406046.1:p.Arg689="
          },
          "RefSeq": {
            "hgvs": "NP_002682.2:p.Arg689="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2189,
          "referenceAllele": "G",
          "start": 2188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000595904.6:c.2144G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472445.1:p.Arg715="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2138,
          "referenceAllele": "G",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000599857.7:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473052.1:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761500"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2242,
          "referenceAllele": "G",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000601098.6:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472600.2:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2127,
          "referenceAllele": "G",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000613923.6:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481858.2:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2240,
          "referenceAllele": "G",
          "start": 2239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000643407.1:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496078.1:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767267"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000644560.1:c.1015G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767882"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2119,
          "referenceAllele": "G",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000440232.6:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406046.1:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2144,
          "referenceAllele": "G",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000595904.5:c.2144G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472445.1:p.Arg715="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 471,
          "referenceAllele": "G",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000596425.1:c.471G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2110,
          "referenceAllele": "G",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000599857.5:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473052.1:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2254,
          "referenceAllele": "G",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000600859.5:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470726.1:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2213,
          "referenceAllele": "G",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000613923.4:c.2144G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481858.1:p.Arg715="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401944"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826408738",
      "coordinates": [
        {
          "allele": "G",
          "end": 2138,
          "referenceAllele": "G",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NM_001256849.1:c.2066G=",
        "LRG_785t1:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243778.1:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019480"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826938187",
      "coordinates": [
        {
          "allele": "G",
          "end": 2144,
          "referenceAllele": "G",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NM_001308632.1:c.2144G=",
        "LRG_785t2:c.2144G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295561.1:p.Arg715="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829394463",
      "coordinates": [
        {
          "allele": "G",
          "end": 2135,
          "referenceAllele": "G",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NM_002691.3:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002682.2:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2135,
          "referenceAllele": "G",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NR_046402.1:n.2135G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051663"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2168,
          "referenceAllele": "G",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_005259008.3:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259065.1:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2193,
          "referenceAllele": "G",
          "start": 2192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_011527038.1:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525340.1:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2080,
          "referenceAllele": "G",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_011527039.1:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525341.1:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2168,
          "referenceAllele": "G",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XR_935835.1:n.2168G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2167,
          "referenceAllele": "G",
          "start": 2166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_005259008.4:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259065.1:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534923"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2212,
          "referenceAllele": "G",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_017026881.1:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016882370.1:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2129,
          "referenceAllele": "G",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_017026882.2:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016882371.1:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2167,
          "referenceAllele": "G",
          "start": 2166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XR_935835.2:n.2167G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829394463",
      "coordinates": [
        {
          "allele": "G",
          "end": 2111,
          "referenceAllele": "G",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NM_002691.4:c.2066G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002682.2:p.Arg689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695609",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440232.7:c.2066G="
          },
          "RefSeq": {
            "hgvs": "NM_002691.4:c.2066G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406046.1:p.Arg689="
          },
          "RefSeq": {
            "hgvs": "NP_002682.2:p.Arg689="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2111,
          "referenceAllele": "G",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NR_046402.2:n.2111G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702488"
    }
  ],
  "type": "nucleotide"
}