{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118611",
  "communityStandardTitle": [
    "NM_000305.3(PON2):c.932C>G (p.Ser311Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4162509"
      },
      {
        "active": false,
        "id": "COSM4162510"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22123[alleleid]",
        "alleleId": 22123,
        "preferredName": "NM_000305.3(PON2):c.932C>G (p.Ser311Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7084",
        "RCV": [
          "RCV000007500",
          "RCV001723548"
        ],
        "variationId": 7084
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-95034775-G-C",
        "id": "7-95034775-G-C",
        "variant": "7:95034775 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.95034775G>C?assembly=hg19",
        "id": "chr7:g.95034775G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.95405463G>C?assembly=hg38",
        "id": "chr7:g.95405463G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7493",
        "rs": 7493
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-95034775-G-C?dataset=gnomad_r2_1",
        "id": "7-95034775-G-C",
        "variant": "7:95034775 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-95405463-G-C?dataset=gnomad_r3",
        "id": "7-95405463-G-C",
        "variant": "7:95405463 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-95405463-G-C?dataset=gnomad_r4",
        "id": "7-95405463-G-C",
        "variant": "7:95405463 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 95405463,
          "referenceAllele": "G",
          "start": 95405462
        }
      ],
      "hgvs": [
        "NC_000007.14:g.95405463G>C",
        "CM000669.2:g.95405463G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 95034775,
          "referenceAllele": "G",
          "start": 95034774
        }
      ],
      "hgvs": [
        "NC_000007.13:g.95034775G>C",
        "CM000669.1:g.95034775G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 94872711,
          "referenceAllele": "G",
          "start": 94872710
        }
      ],
      "hgvs": [
        "NC_000007.12:g.94872711G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34610,
          "referenceAllele": "C",
          "start": 34609
        }
      ],
      "hgvs": [
        "NG_008725.1:g.34610C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001183"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1009,
          "referenceAllele": "C",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009205",
      "geneNCBI_id": 5445,
      "geneSymbol": "PON2",
      "hgvs": [
        "ENST00000222572.8:c.932C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222572.3:p.Ser311Cys",
        "hgvsWellDefined": "ENSP00000222572.3:p.Ser311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222572.8:c.932C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000305.3:c.932C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222572.3:p.Ser311Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000296.2:p.Ser311Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1179,
          "referenceAllele": "C",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009205",
      "geneNCBI_id": 5445,
      "geneSymbol": "PON2",
      "hgvs": [
        "ENST00000222572.7:c.932C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222572.3:p.Ser311Cys",
        "hgvsWellDefined": "ENSP00000222572.3:p.Ser311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009205",
      "geneNCBI_id": 5445,
      "geneSymbol": "PON2",
      "hgvs": [
        "ENST00000433091.6:c.896C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404622.2:p.Ser299Cys",
        "hgvsWellDefined": "ENSP00000404622.2:p.Ser299Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292380"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 975,
          "referenceAllele": "C",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009205",
      "geneNCBI_id": 5445,
      "geneSymbol": "PON2",
      "hgvs": [
        "ENST00000446142.5:c.*797C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405211.1:n.*797C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 919,
          "referenceAllele": "C",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009205",
      "geneNCBI_id": 5445,
      "geneSymbol": "PON2",
      "hgvs": [
        "ENST00000455123.5:c.*219C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414515.1:n.*219C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302891"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009205",
      "geneNCBI_id": 5445,
      "geneSymbol": "PON2",
      "hgvs": [
        "ENST00000483292.5:c.514C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322796"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1310,
          "referenceAllele": "C",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009205",
      "geneNCBI_id": 5445,
      "geneSymbol": "PON2",
      "hgvs": [
        "ENST00000633192.1:c.995C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488378.1:p.Ser332Cys",
        "hgvsWellDefined": "ENSP00000488378.1:p.Ser332Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1053,
          "referenceAllele": "C",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009205",
      "geneNCBI_id": 5445,
      "geneSymbol": "PON2",
      "hgvs": [
        "ENST00000633531.1:c.932C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488838.1:p.Ser311Cys",
        "hgvsWellDefined": "ENSP00000488838.1:p.Ser311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407681"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118612",
      "coordinates": [
        {
          "allele": "G",
          "end": 1053,
          "referenceAllele": "C",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009205",
      "geneNCBI_id": 5445,
      "geneSymbol": "PON2",
      "hgvs": [
        "NM_000305.2:c.932C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000296.2:p.Ser311Cys",
        "hgvsWellDefined": "NP_000296.2:p.Ser311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006366"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825330777",
      "coordinates": [
        {
          "allele": "G",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009205",
      "geneNCBI_id": 5445,
      "geneSymbol": "PON2",
      "hgvs": [
        "NM_001018161.1:c.896C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018171.1:p.Ser299Cys",
        "hgvsWellDefined": "NP_001018171.1:p.Ser299Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008713"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 983,
          "referenceAllele": "C",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009205",
      "geneNCBI_id": 5445,
      "geneSymbol": "PON2",
      "hgvs": [
        "XM_005250453.1:c.728C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250510.1:p.Ser243Cys",
        "hgvsWellDefined": "XP_005250510.1:p.Ser243Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "C",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009205",
      "geneNCBI_id": 5445,
      "geneSymbol": "PON2",
      "hgvs": [
        "XM_005250454.1:c.722C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250511.1:p.Ser241Cys",
        "hgvsWellDefined": "XP_005250511.1:p.Ser241Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1059,
          "referenceAllele": "C",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009205",
      "geneNCBI_id": 5445,
      "geneSymbol": "PON2",
      "hgvs": [
        "XM_011516333.1:c.674C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514635.1:p.Ser225Cys",
        "hgvsWellDefined": "XP_011514635.1:p.Ser225Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1053,
          "referenceAllele": "C",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009205",
      "geneNCBI_id": 5445,
      "geneSymbol": "PON2",
      "hgvs": [
        "XM_017012357.2:c.722C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867846.1:p.Ser241Cys",
        "hgvsWellDefined": "XP_016867846.1:p.Ser241Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1079,
          "referenceAllele": "C",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009205",
      "geneNCBI_id": 5445,
      "geneSymbol": "PON2",
      "hgvs": [
        "XM_017012358.2:c.674C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867847.1:p.Ser225Cys",
        "hgvsWellDefined": "XP_016867847.1:p.Ser225Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118612",
      "coordinates": [
        {
          "allele": "G",
          "end": 1009,
          "referenceAllele": "C",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009205",
      "geneNCBI_id": 5445,
      "geneSymbol": "PON2",
      "hgvs": [
        "NM_000305.3:c.932C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000296.2:p.Ser311Cys",
        "hgvsWellDefined": "NP_000296.2:p.Ser311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662396",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222572.8:c.932C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000305.3:c.932C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222572.3:p.Ser311Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000296.2:p.Ser311Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825330777",
      "coordinates": [
        {
          "allele": "G",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009205",
      "geneNCBI_id": 5445,
      "geneSymbol": "PON2",
      "hgvs": [
        "NM_001018161.2:c.896C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018171.1:p.Ser299Cys",
        "hgvsWellDefined": "NP_001018171.1:p.Ser299Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711423"
    }
  ],
  "type": "nucleotide"
}