{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346943308",
  "communityStandardTitle": [
    "NM_033109.5(PNPT1):c.162-2A>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3380083[alleleid]",
        "alleleId": 3380083,
        "preferredName": "NM_033109.5(PNPT1):c.162-2A>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3220865",
        "RCV": [
          "RCV004515752"
        ],
        "variationId": 3220865
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.55914842T>G?assembly=hg19",
        "id": "chr2:g.55914842T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.55687707T>G?assembly=hg38",
        "id": "chr2:g.55687707T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2529627773",
        "rs": 2529627773
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 55687707,
          "referenceAllele": "T",
          "start": 55687706
        }
      ],
      "hgvs": [
        "NC_000002.12:g.55687707T>G",
        "CM000664.2:g.55687707T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 55914842,
          "referenceAllele": "T",
          "start": 55914841
        }
      ],
      "hgvs": [
        "NC_000002.11:g.55914842T>G",
        "CM000664.1:g.55914842T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 55768346,
          "referenceAllele": "T",
          "start": 55768345
        }
      ],
      "hgvs": [
        "NC_000002.10:g.55768346T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11204,
          "referenceAllele": "A",
          "start": 11203
        }
      ],
      "hgvs": [
        "NG_033012.1:g.11204A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005349"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 182,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 182,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "ENST00000447944.7:c.162-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400646.2:n.162-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756149",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000447944.7:c.162-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_033109.5:c.162-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400646.2:n.162-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_149100.2:n.162-2A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 180,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 180,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "ENST00000260604.8:c.162-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260604.4:n.162-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250614"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 161,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 161,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "ENST00000415374.5:c.162-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393953.1:n.162-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 201,
          "endIntronDirection": "-",
          "endIntronOffset": 2658,
          "referenceAllele": "A",
          "start": 201,
          "startIntronDirection": "-",
          "startIntronOffset": 2659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "ENST00000429805.1:c.162-2659A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411994.1:n.162-2659A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290837"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 248,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 248,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "ENST00000447944.6:c.162-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400646.2:n.162-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299498"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 161,
          "endIntronDirection": "-",
          "endIntronOffset": 2658,
          "referenceAllele": "A",
          "start": 161,
          "startIntronDirection": "-",
          "startIntronOffset": 2659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "ENST00000625249.1:c.162-2659A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486227.1:n.162-2659A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406547"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 248,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 248,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "NM_033109.4:c.162-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_149100.2:n.162-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 182,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 182,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "XM_005264629.1:c.-75-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264686.1:n.-75-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 191,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 191,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "XM_011533142.1:c.162-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531444.1:n.162-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 182,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 182,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "XM_005264629.2:c.-75-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264686.1:n.-75-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535915"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 189,
          "endIntronDirection": "-",
          "endIntronOffset": 1262,
          "referenceAllele": "A",
          "start": 189,
          "startIntronDirection": "-",
          "startIntronOffset": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "XM_017005172.1:c.-18-1263A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860661.1:n.-18-1263A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 191,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 191,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "XR_001739010.1:n.192-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 182,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 182,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "NM_033109.5:c.162-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_149100.2:n.162-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671499",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000447944.7:c.162-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_033109.5:c.162-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400646.2:n.162-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_149100.2:n.162-2A>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}