{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA387651052",
  "communityStandardTitle": [
    "NM_001265.6(CDX2):c.761A>C (p.Gln254Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2221356[alleleid]",
        "alleleId": 2221356,
        "preferredName": "NM_001265.6(CDX2):c.761A>C (p.Gln254Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2237106",
        "RCV": [
          "RCV004096662"
        ],
        "variationId": 2237106
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.28537433T>G?assembly=hg19",
        "id": "chr13:g.28537433T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.27963296T>G?assembly=hg38",
        "id": "chr13:g.27963296T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1284944894",
        "rs": 1284944894
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 27963296,
          "referenceAllele": "T",
          "start": 27963295
        }
      ],
      "hgvs": [
        "NC_000013.11:g.27963296T>G",
        "CM000675.2:g.27963296T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 28537433,
          "referenceAllele": "T",
          "start": 28537432
        }
      ],
      "hgvs": [
        "NC_000013.10:g.28537433T>G",
        "CM000675.1:g.28537433T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 27435433,
          "referenceAllele": "T",
          "start": 27435432
        }
      ],
      "hgvs": [
        "NC_000013.9:g.27435433T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1070,
          "referenceAllele": "A",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "ENST00000381020.8:c.761A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370408.6:p.Gln254Pro",
        "hgvsWellDefined": "ENSP00000370408.6:p.Gln254Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381020.8:c.761A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001265.6:c.761A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370408.6:p.Gln254Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001256.4:p.Gln254Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2894,
          "referenceAllele": "A",
          "start": 2893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "ENST00000381020.7:c.761A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370408.6:p.Gln254Pro",
        "hgvsWellDefined": "ENSP00000370408.6:p.Gln254Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 289,
          "referenceAllele": "A",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "ENST00000548877.1:n.289A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1123,
          "referenceAllele": "A",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "NM_001265.4:c.761A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001256.3:p.Gln254Pro",
        "hgvsWellDefined": "NP_001256.3:p.Gln254Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1116,
          "referenceAllele": "A",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "XM_011534875.1:c.785A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533177.1:p.Gln262Pro",
        "hgvsWellDefined": "XP_011533177.1:p.Gln262Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1112,
          "referenceAllele": "A",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "XM_011534876.1:c.781A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533178.1:p.Ser261Arg",
        "hgvsWellDefined": "XP_011533178.1:p.Ser261Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1088,
          "referenceAllele": "A",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "XM_011534877.1:c.757A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533179.1:p.Ser253Arg",
        "hgvsWellDefined": "XP_011533179.1:p.Ser253Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 874,
          "referenceAllele": "A",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "XM_011534878.1:c.434A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533180.1:p.Gln145Pro",
        "hgvsWellDefined": "XP_011533180.1:p.Gln145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 844,
          "referenceAllele": "A",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "XM_011534879.1:c.410A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533181.1:p.Gln137Pro",
        "hgvsWellDefined": "XP_011533181.1:p.Gln137Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "A",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "XM_011534880.1:c.365A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533182.1:p.Gln122Pro",
        "hgvsWellDefined": "XP_011533182.1:p.Gln122Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1123,
          "referenceAllele": "A",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "NM_001265.5:c.761A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001256.3:p.Gln254Pro",
        "hgvsWellDefined": "NP_001256.3:p.Gln254Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580228461",
      "coordinates": [
        {
          "allele": "C",
          "end": 1119,
          "referenceAllele": "A",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "NM_001354700.1:c.757A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341629.1:p.Ser253Arg",
        "hgvsWellDefined": "NP_001341629.1:p.Ser253Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1116,
          "referenceAllele": "A",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "XM_011534875.2:c.785A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533177.1:p.Gln262Pro",
        "hgvsWellDefined": "XP_011533177.1:p.Gln262Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1112,
          "referenceAllele": "A",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "XM_011534876.2:c.781A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533178.1:p.Ser261Arg",
        "hgvsWellDefined": "XP_011533178.1:p.Ser261Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "referenceAllele": "A",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "XM_011534878.2:c.434A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533180.1:p.Gln145Pro",
        "hgvsWellDefined": "XP_011533180.1:p.Gln145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551809"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1243,
          "referenceAllele": "A",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "XM_011534879.2:c.410A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533181.1:p.Gln137Pro",
        "hgvsWellDefined": "XP_011533181.1:p.Gln137Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826490199",
      "coordinates": [
        {
          "allele": "C",
          "end": 1070,
          "referenceAllele": "A",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "NM_001265.6:c.761A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001256.4:p.Gln254Pro",
        "hgvsWellDefined": "NP_001256.4:p.Gln254Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680911",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381020.8:c.761A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001265.6:c.761A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370408.6:p.Gln254Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001256.4:p.Gln254Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580228461",
      "coordinates": [
        {
          "allele": "C",
          "end": 1066,
          "referenceAllele": "A",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001806",
      "geneNCBI_id": 1045,
      "geneSymbol": "CDX2",
      "hgvs": [
        "NM_001354700.2:c.757A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341629.1:p.Ser253Arg",
        "hgvsWellDefined": "NP_001341629.1:p.Ser253Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720553"
    }
  ],
  "type": "nucleotide"
}