{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1485101210",
  "communityStandardTitle": [
    "NM_000325.6(PITX2):c.406G= (p.Val136=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909249",
        "rs": 121909249
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 110621169,
          "referenceAllele": "C",
          "start": 110621168
        }
      ],
      "hgvs": [
        "NC_000004.12:g.110621169C=",
        "CM000666.2:g.110621169C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 111542325,
          "referenceAllele": "C",
          "start": 111542324
        }
      ],
      "hgvs": [
        "NC_000004.11:g.111542325C=",
        "CM000666.1:g.111542325C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 111761774,
          "referenceAllele": "C",
          "start": 111761773
        }
      ],
      "hgvs": [
        "NC_000004.10:g.111761774C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21184,
          "referenceAllele": "G",
          "start": 21183
        }
      ],
      "hgvs": [
        "NG_007120.1:g.21184G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000494"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 440,
          "endIntronDirection": "-",
          "endIntronOffset": 2480,
          "referenceAllele": "G",
          "start": 440,
          "startIntronDirection": "-",
          "startIntronOffset": 2481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000613094.5:c.185-2481G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484763.2:n.185-2481G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826434"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000614423.5:c.304G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481951.2:p.Val102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000616641.5:n.372G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826487"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "referenceAllele": "G",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000644488.2:n.376G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000394595.8:c.385G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378095.4:p.Val129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753279"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000644488.1:n.448G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1023,
          "referenceAllele": "G",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000644743.1:c.406G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495061.1:p.Val136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767970",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644743.1:c.406G="
          },
          "RefSeq": {
            "hgvs": "NM_000325.6:c.406G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495061.1:p.Val136="
          },
          "RefSeq": {
            "hgvs": "NP_000316.2:p.Val136="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 337,
          "referenceAllele": "G",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000645131.1:n.337G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768187"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1049,
          "referenceAllele": "G",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000306732.7:c.406G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304169.3:p.Val136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2091,
          "referenceAllele": "G",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000354925.6:c.385G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347004.2:p.Val129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263282"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000355080.9:c.247G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347192.5:p.Val83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263324"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 440,
          "endIntronDirection": "-",
          "endIntronOffset": 2480,
          "referenceAllele": "G",
          "start": 440,
          "startIntronDirection": "-",
          "startIntronOffset": 2481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000394595.7:c.185-2481G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378095.3:n.185-2481G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 635,
          "referenceAllele": "G",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000394598.6:c.385G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378097.2:p.Val129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "G",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000511837.5:c.385G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421454.1:p.Val129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 355,
          "referenceAllele": "G",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000511990.1:c.247G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424142.1:p.Val83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000557119.2:c.406G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475617.1:p.Val136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372762"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1974,
          "referenceAllele": "G",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000613094.4:c.385G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484763.1:p.Val129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "G",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000614423.4:c.385G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481951.1:p.Val129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402187"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1836,
          "referenceAllele": "G",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000616641.4:c.247G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484909.1:p.Val83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069888320",
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_000325.5:c.406G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000316.2:p.Val136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2208,
          "referenceAllele": "G",
          "start": 2207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204397.1:c.385G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191326.1:p.Val129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "G",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204398.1:c.385G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191327.1:p.Val129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 462,
          "referenceAllele": "G",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204399.1:c.247G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191328.1:p.Val83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017636"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1974,
          "referenceAllele": "G",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153426.2:c.385G="
      ],
      "proteinEffect": {
        "hgvs": "NP_700475.1:p.Val129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1836,
          "referenceAllele": "G",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153427.2:c.247G="
      ],
      "proteinEffect": {
        "hgvs": "NP_700476.1:p.Val83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 414,
          "referenceAllele": "G",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "XM_006714235.2:c.385G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714298.1:p.Val129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1688,
          "referenceAllele": "G",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "XM_011532027.1:c.247G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530329.1:p.Val83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "XM_024454090.1:c.52G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024309858.1:p.Val18="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069888320",
      "coordinates": [
        {
          "allele": "G",
          "end": 1023,
          "referenceAllele": "G",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_000325.6:c.406G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000316.2:p.Val136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644743.1:c.406G="
          },
          "RefSeq": {
            "hgvs": "NM_000325.6:c.406G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495061.1:p.Val136="
          },
          "RefSeq": {
            "hgvs": "NP_000316.2:p.Val136="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "G",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204397.2:c.385G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191326.1:p.Val129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153426.3:c.385G="
      ],
      "proteinEffect": {
        "hgvs": "NP_700475.1:p.Val129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784313"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153427.3:c.247G="
      ],
      "proteinEffect": {
        "hgvs": "NP_700476.1:p.Val83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784314"
    }
  ],
  "type": "nucleotide"
}