{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2045981",
  "communityStandardTitle": [
    "NM_001172509.2(SATB2):c.967G>A (p.Val323Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2002401[alleleid]",
        "alleleId": 2002401,
        "preferredName": "NM_001172509.2(SATB2):c.967G>A (p.Val323Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1946123",
        "RCV": [
          "RCV002658673"
        ],
        "variationId": 1946123
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-200213630-C-T",
        "id": "2-200213630-C-T",
        "variant": "2:200213630 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.200213630C>T?assembly=hg19",
        "id": "chr2:g.200213630C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.199348907C>T?assembly=hg38",
        "id": "chr2:g.199348907C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778684147",
        "rs": 778684147
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-200213630-C-T?dataset=gnomad_r2_1",
        "id": "2-200213630-C-T",
        "variant": "2:200213630 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-199348907-C-T?dataset=gnomad_r3",
        "id": "2-199348907-C-T",
        "variant": "2:199348907 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-199348907-C-T?dataset=gnomad_r4",
        "id": "2-199348907-C-T",
        "variant": "2:199348907 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 199348907,
          "referenceAllele": "C",
          "start": 199348906
        }
      ],
      "hgvs": [
        "NC_000002.12:g.199348907C>T",
        "CM000664.2:g.199348907C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 200213630,
          "referenceAllele": "C",
          "start": 200213629
        }
      ],
      "hgvs": [
        "NC_000002.11:g.200213630C>T",
        "CM000664.1:g.200213630C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 199921875,
          "referenceAllele": "C",
          "start": 199921874
        }
      ],
      "hgvs": [
        "NC_000002.10:g.199921875C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 127360,
          "referenceAllele": "G",
          "start": 127359
        }
      ],
      "hgvs": [
        "NG_016976.1:g.127360G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 127360,
          "referenceAllele": "G",
          "start": 127359
        }
      ],
      "hgvs": [
        "NG_016976.2:g.127360G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673692"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 842,
          "referenceAllele": "G",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "ENST00000428695.6:c.613G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388581.1:p.Val205Ile",
        "hgvsWellDefined": "ENSP00000388581.1:p.Val205Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904820"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "ENST00000700191.1:c.613G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514853.1:p.Val205Ile",
        "hgvsWellDefined": "ENSP00000514853.1:p.Val205Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "ENST00000700193.1:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514854.1:p.Val323Ile",
        "hgvsWellDefined": "ENSP00000514854.1:p.Val323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 581,
          "endIntronDirection": "-",
          "endIntronOffset": 76234,
          "referenceAllele": "G",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 76235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "ENST00000700208.1:c.347-76235G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514860.1:n.347-76235G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 621,
          "referenceAllele": "G",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "ENST00000700210.1:c.621G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1627,
          "referenceAllele": "G",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "ENST00000417098.6:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401112.1:p.Val323Ile",
        "hgvsWellDefined": "ENSP00000401112.1:p.Val323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000417098.6:c.967G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001172509.2:c.967G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000401112.1:p.Val323Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001165980.1:p.Val323Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1380,
          "referenceAllele": "G",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "ENST00000260926.9:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260926.5:p.Val323Ile",
        "hgvsWellDefined": "ENSP00000260926.5:p.Val323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1784,
          "referenceAllele": "G",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "ENST00000417098.5:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401112.1:p.Val323Ile",
        "hgvsWellDefined": "ENSP00000401112.1:p.Val323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 664,
          "referenceAllele": "G",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "ENST00000428695.5:c.613G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388581.1:p.Val205Ile",
        "hgvsWellDefined": "ENSP00000388581.1:p.Val205Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2256,
          "referenceAllele": "G",
          "start": 2255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "ENST00000443023.5:c.790G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388764.1:p.Val264Ile",
        "hgvsWellDefined": "ENSP00000388764.1:p.Val264Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "ENST00000457245.5:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405420.1:p.Val323Ile",
        "hgvsWellDefined": "ENSP00000405420.1:p.Val323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 606,
          "referenceAllele": "G",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "ENST00000483346.2:n.606G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "ENST00000614512.4:c.613G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483287.1:p.Val205Ile",
        "hgvsWellDefined": "ENSP00000483287.1:p.Val205Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826066937",
      "coordinates": [
        {
          "allele": "A",
          "end": 1784,
          "referenceAllele": "G",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "NM_001172509.1:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165980.1:p.Val323Ile",
        "hgvsWellDefined": "NP_001165980.1:p.Val323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826067602",
      "coordinates": [
        {
          "allele": "A",
          "end": 1380,
          "referenceAllele": "G",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "NM_001172517.1:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165988.1:p.Val323Ile",
        "hgvsWellDefined": "NP_001165988.1:p.Val323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580388869",
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "NM_015265.3:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056080.1:p.Val323Ile",
        "hgvsWellDefined": "NP_056080.1:p.Val323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1761,
          "referenceAllele": "G",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "XM_005246396.1:c.793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246453.1:p.Val265Ile",
        "hgvsWellDefined": "XP_005246453.1:p.Val265Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1130,
          "referenceAllele": "G",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "XM_006712372.1:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712435.1:p.Val323Ile",
        "hgvsWellDefined": "XP_006712435.1:p.Val323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1354,
          "referenceAllele": "G",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "XM_011510840.1:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509142.1:p.Val323Ile",
        "hgvsWellDefined": "XP_011509142.1:p.Val323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1765,
          "referenceAllele": "G",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "XM_005246396.3:c.793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246453.1:p.Val265Ile",
        "hgvsWellDefined": "XP_005246453.1:p.Val265Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1354,
          "referenceAllele": "G",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "XM_011510840.3:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509142.1:p.Val323Ile",
        "hgvsWellDefined": "XP_011509142.1:p.Val323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541911"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "XM_017003656.1:c.793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859145.1:p.Val265Ile",
        "hgvsWellDefined": "XP_016859145.1:p.Val265Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 905,
          "referenceAllele": "G",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "XM_024452767.1:c.544G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308535.1:p.Val182Ile",
        "hgvsWellDefined": "XP_024308535.1:p.Val182Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "XM_024452768.1:c.544G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308536.1:p.Val182Ile",
        "hgvsWellDefined": "XP_024308536.1:p.Val182Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826066937",
      "coordinates": [
        {
          "allele": "A",
          "end": 1627,
          "referenceAllele": "G",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "NM_001172509.2:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165980.1:p.Val323Ile",
        "hgvsWellDefined": "NP_001165980.1:p.Val323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663902",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000417098.6:c.967G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001172509.2:c.967G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000401112.1:p.Val323Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001165980.1:p.Val323Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580388869",
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021637",
      "geneNCBI_id": 23314,
      "geneSymbol": "SATB2",
      "hgvs": [
        "NM_015265.4:c.967G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056080.1:p.Val323Ile",
        "hgvsWellDefined": "NP_056080.1:p.Val323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697490"
    }
  ],
  "type": "nucleotide"
}