{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2479599",
  "communityStandardTitle": [
    "NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=453130[alleleid]",
        "alleleId": 453130,
        "preferredName": "NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/478004",
        "RCV": [
          "RCV000541109",
          "RCV001145306"
        ],
        "variationId": 478004
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-64132564-C-T",
        "id": "3-64132564-C-T",
        "variant": "3:64132564 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.64132564C>T?assembly=hg19",
        "id": "chr3:g.64132564C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.64146888C>T?assembly=hg38",
        "id": "chr3:g.64146888C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144757200",
        "rs": 144757200
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-64132564-C-T?dataset=gnomad_r2_1",
        "id": "3-64132564-C-T",
        "variant": "3:64132564 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-64146888-C-T?dataset=gnomad_r3",
        "id": "3-64146888-C-T",
        "variant": "3:64146888 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-64146888-C-T?dataset=gnomad_r4",
        "id": "3-64146888-C-T",
        "variant": "3:64146888 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 64146888,
          "referenceAllele": "C",
          "start": 64146887
        }
      ],
      "hgvs": [
        "NC_000003.12:g.64146888C>T",
        "CM000665.2:g.64146888C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 64132564,
          "referenceAllele": "C",
          "start": 64132563
        }
      ],
      "hgvs": [
        "NC_000003.11:g.64132564C>T",
        "CM000665.1:g.64132564C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 64107604,
          "referenceAllele": "C",
          "start": 64107603
        }
      ],
      "hgvs": [
        "NC_000003.10:g.64107604C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 83568,
          "referenceAllele": "G",
          "start": 83567
        }
      ],
      "hgvs": [
        "NG_031930.1:g.83568G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005037"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1805,
          "referenceAllele": "G",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "ENST00000295902.11:c.1770G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295902.7:p.Thr590="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1918,
          "referenceAllele": "G",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "ENST00000564377.6:c.1602G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455004.2:p.Thr534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2199,
          "referenceAllele": "G",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "ENST00000638394.2:c.1602G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492363.1:p.Thr534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764507",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000638394.2:c.1602G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198859.4:c.1602G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492363.1:p.Thr534="
          },
          "RefSeq": {
            "hgvs": "NP_942559.1:p.Thr534="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2670,
          "referenceAllele": "G",
          "start": 2669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "ENST00000640095.1:n.2670G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765335"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2241,
          "referenceAllele": "G",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "ENST00000640303.1:n.2241G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765431"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2188,
          "referenceAllele": "G",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "ENST00000295902.10:c.1602G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295902.6:p.Thr534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1780,
          "referenceAllele": "G",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "ENST00000564377.5:c.1770G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455004.1:p.Thr590="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830460023",
      "coordinates": [
        {
          "allele": "A",
          "end": 2188,
          "referenceAllele": "G",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "NM_198859.3:c.1602G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_942559.1:p.Thr534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1982,
          "referenceAllele": "G",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_011533432.1:c.1878G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531734.1:p.Thr626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1982,
          "referenceAllele": "G",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_011533433.1:c.1878G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531735.1:p.Thr626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1804,
          "referenceAllele": "G",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_011533434.1:c.1770G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531736.1:p.Thr590="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1802,
          "referenceAllele": "G",
          "start": 1801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_011533435.1:c.1770G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531737.1:p.Thr590="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1927,
          "referenceAllele": "G",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_011533436.1:c.1602G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531738.1:p.Thr534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100457"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2194,
          "referenceAllele": "G",
          "start": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_011533437.1:c.1602G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531739.1:p.Thr534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1905,
          "referenceAllele": "G",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_011533438.1:c.1251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531740.1:p.Thr417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1754,
          "referenceAllele": "G",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_011533439.1:c.1602G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531741.1:p.Thr534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1982,
          "referenceAllele": "G",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_011533440.1:c.1878G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531742.1:p.Thr626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1982,
          "referenceAllele": "G",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_011533432.2:c.1878G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531734.1:p.Thr626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1982,
          "referenceAllele": "G",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_011533433.2:c.1878G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531735.1:p.Thr626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "referenceAllele": "G",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_011533434.2:c.1770G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531736.1:p.Thr590="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "referenceAllele": "G",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_011533435.2:c.1770G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531737.1:p.Thr590="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2039,
          "referenceAllele": "G",
          "start": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_011533436.3:c.1602G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531738.1:p.Thr534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11110,
          "referenceAllele": "G",
          "start": 11109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_011533437.2:c.1602G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531739.1:p.Thr534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1932,
          "referenceAllele": "G",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_011533438.2:c.1251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531740.1:p.Thr417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1982,
          "referenceAllele": "G",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_011533440.2:c.1878G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531742.1:p.Thr626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1912,
          "referenceAllele": "G",
          "start": 1911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_017005798.1:c.1602G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861287.1:p.Thr534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3661,
          "referenceAllele": "G",
          "start": 3660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "XM_017005799.1:c.1230G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861288.1:p.Thr410="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560989"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830460023",
      "coordinates": [
        {
          "allele": "A",
          "end": 2199,
          "referenceAllele": "G",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "NM_198859.4:c.1602G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_942559.1:p.Thr534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673174",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000638394.2:c.1602G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198859.4:c.1602G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492363.1:p.Thr534="
          },
          "RefSeq": {
            "hgvs": "NP_942559.1:p.Thr534="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828436909",
      "coordinates": [
        {
          "allele": "A",
          "end": 1917,
          "referenceAllele": "G",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020340",
      "geneNCBI_id": 166336,
      "geneSymbol": "PRICKLE2",
      "hgvs": [
        "NM_001370528.1:c.1602G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357457.1:p.Thr534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692527"
    }
  ],
  "type": "nucleotide"
}