{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12038728",
  "communityStandardTitle": [
    "NM_181675.4(PPP2R2B):c.447+2029C>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.146068662G>T?assembly=hg19",
        "id": "chr5:g.146068662G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.146689099G>T?assembly=hg38",
        "id": "chr5:g.146689099G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7736604",
        "rs": 7736604
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-146068662-G-T?dataset=gnomad_r2_1",
        "id": "5-146068662-G-T",
        "variant": "5:146068662 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-146689099-G-T?dataset=gnomad_r3",
        "id": "5-146689099-G-T",
        "variant": "5:146689099 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-146689099-G-T?dataset=gnomad_r4",
        "id": "5-146689099-G-T",
        "variant": "5:146689099 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 146689099,
          "referenceAllele": "G",
          "start": 146689098
        }
      ],
      "hgvs": [
        "NC_000005.10:g.146689099G>T",
        "CM000667.2:g.146689099G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 146068662,
          "referenceAllele": "G",
          "start": 146068661
        }
      ],
      "hgvs": [
        "NC_000005.9:g.146068662G>T",
        "CM000667.1:g.146068662G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 146048855,
          "referenceAllele": "G",
          "start": 146048854
        }
      ],
      "hgvs": [
        "NC_000005.8:g.146048855G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 397372,
          "referenceAllele": "C",
          "start": 397371
        }
      ],
      "hgvs": [
        "NG_011570.1:g.397372C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 397372,
          "referenceAllele": "C",
          "start": 397371
        }
      ],
      "hgvs": [
        "NG_011570.2:g.397372C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673548"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 738,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "ENST00000394411.9:c.447+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377933.3:n.447+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753251",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394411.9:c.447+2029C>A"
          },
          "RefSeq": {
            "hgvs": "NM_181675.4:c.447+2029C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377933.3:n.447+2029C>A"
          },
          "RefSeq": {
            "hgvs": "NP_858061.3:n.447+2029C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 687,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 687,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "ENST00000336640.10:c.456+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336591.6:n.456+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260335"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 1018,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "ENST00000394409.7:c.447+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377931.4:n.447+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 746,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "ENST00000394411.8:c.447+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377933.3:n.447+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 822,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 822,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "ENST00000394413.7:c.621+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377935.4:n.621+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 934,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "ENST00000394414.5:c.645+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377936.1:n.645+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1246,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 1246,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "ENST00000453001.5:c.414+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398779.2:n.414+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 690,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "ENST00000504198.5:c.465+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421396.1:n.465+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 714,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 714,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "ENST00000508545.6:c.414+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431320.1:n.414+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1042,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 1042,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "ENST00000512639.5:c.*397+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426599.1:n.*397+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342595"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "endIntronDirection": "-",
          "endIntronOffset": 38374,
          "referenceAllele": "C",
          "start": 352,
          "startIntronDirection": "-",
          "startIntronOffset": 38375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "ENST00000522831.1:n.353-38375C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS349354"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 765,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 765,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "ENST00000530902.5:n.765+2029C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 719,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 719,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "NM_001271899.1:c.465+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258828.1:n.465+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020712"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 913,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 913,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "NM_001271900.1:c.621+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258829.1:n.621+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1246,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 1246,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "NM_001271948.1:c.414+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258877.1:n.414+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 1044,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "NM_181674.2:c.645+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_858060.2:n.645+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 766,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 766,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "NM_181675.3:c.765+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_858061.2:n.765+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 850,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 850,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "NM_181676.2:c.456+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_858062.1:n.456+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 676,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "NM_181677.2:c.387+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_858063.1:n.387+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 689,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 689,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "NM_181678.2:c.414+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_858064.1:n.414+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043815"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1161,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 1161,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "NR_073526.1:n.1161+2029C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052663"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 798,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 798,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "NR_073527.1:n.798+2029C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052664"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 827,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 827,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "NM_001271900.2:c.621+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258829.1:n.621+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 1133,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "NR_073526.2:n.1133+2029C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1218,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 1218,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "NM_001271948.2:c.414+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258877.1:n.414+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 868,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 868,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "NM_181674.3:c.645+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_858060.2:n.645+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 738,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "NM_181675.4:c.447+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_858061.3:n.447+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394411.9:c.447+2029C>A"
          },
          "RefSeq": {
            "hgvs": "NM_181675.4:c.447+2029C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377933.3:n.447+2029C>A"
          },
          "RefSeq": {
            "hgvs": "NP_858061.3:n.447+2029C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 674,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 674,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "NM_181676.3:c.456+2029C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_858062.1:n.456+2029C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 628,
          "endIntronDirection": "+",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 628,
          "startIntronDirection": "+",
          "startIntronOffset": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009305",
      "geneNCBI_id": 5521,
      "geneSymbol": "PPP2R2B",
      "hgvs": [
        "NR_073527.2:n.628+2029C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730547"
    }
  ],
  "type": "nucleotide"
}