{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1294881316",
  "communityStandardTitle": [
    "NM_014795.4(ZEB2):c.3356A= (p.Gln1119=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852983",
        "rs": 137852983
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 144389740,
          "referenceAllele": "T",
          "start": 144389739
        }
      ],
      "hgvs": [
        "NC_000002.12:g.144389740T=",
        "CM000664.2:g.144389740T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 145147307,
          "referenceAllele": "T",
          "start": 145147306
        }
      ],
      "hgvs": [
        "NC_000002.11:g.145147307T=",
        "CM000664.1:g.145147307T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 144863777,
          "referenceAllele": "T",
          "start": 144863776
        }
      ],
      "hgvs": [
        "NC_000002.10:g.144863777T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 135652,
          "referenceAllele": "A",
          "start": 135651
        }
      ],
      "hgvs": [
        "NG_016431.1:g.135652A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003185"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3563,
          "referenceAllele": "A",
          "start": 3562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000689298.1:c.*3205A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508434.1:n.*3205A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3333,
          "referenceAllele": "A",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000440875.6:c.2579A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475553.3:p.Gln860="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3606,
          "referenceAllele": "A",
          "start": 3605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000627532.3:c.3356A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487174.1:p.Gln1119="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762493",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000627532.3:c.3356A="
          },
          "RefSeq": {
            "hgvs": "NM_014795.4:c.3356A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000487174.1:p.Gln1119="
          },
          "RefSeq": {
            "hgvs": "NP_055610.1:p.Gln1119="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3773,
          "referenceAllele": "A",
          "start": 3772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000636026.2:c.3244A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490776.1:p.Arg1082="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3325,
          "referenceAllele": "A",
          "start": 3324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000636179.1:n.3325A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3325,
          "referenceAllele": "A",
          "start": 3324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000636413.1:c.3020A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490508.1:p.Gln1007="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3924,
          "referenceAllele": "A",
          "start": 3923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000636471.1:c.3431A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490317.1:p.Gln1144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3643,
          "referenceAllele": "A",
          "start": 3642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000636732.2:c.*3073A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490175.1:n.*3073A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3456,
          "referenceAllele": "A",
          "start": 3455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000636820.1:n.3456A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3432,
          "referenceAllele": "A",
          "start": 3431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000637045.1:c.3020A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490141.1:p.Gln1007="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3499,
          "referenceAllele": "A",
          "start": 3498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000637304.1:c.3020A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490872.1:p.Gln1007="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3481,
          "referenceAllele": "A",
          "start": 3480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000638007.1:c.3020A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490723.1:p.Gln1007="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764270"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3680,
          "referenceAllele": "A",
          "start": 3679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000638087.1:c.3020A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490673.1:p.Gln1007="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3273,
          "referenceAllele": "A",
          "start": 3272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000638128.1:c.2579A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490934.1:p.Gln860="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 151,
          "endIntronDirection": "+",
          "endIntronOffset": 6672,
          "referenceAllele": "A",
          "start": 151,
          "startIntronDirection": "+",
          "startIntronOffset": 6671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000639389.1:c.151+6672A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492572.1:n.151+6672A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 576,
          "referenceAllele": "A",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000647488.1:c.576A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494820.1:n.576A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1243,
          "referenceAllele": "A",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000675069.1:c.887A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502467.1:p.Gln296="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3490,
          "referenceAllele": "A",
          "start": 3489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000303660.8:c.3353A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302501.4:p.Gln1118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3639,
          "referenceAllele": "A",
          "start": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000409487.7:c.3356A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386854.2:p.Gln1119="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 888,
          "endIntronDirection": "-",
          "endIntronOffset": 857,
          "referenceAllele": "A",
          "start": 888,
          "startIntronDirection": "-",
          "startIntronOffset": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000419938.5:c.656-858A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394777.2:n.656-858A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3534,
          "referenceAllele": "A",
          "start": 3533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000539609.7:c.3284A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443792.2:p.Gln1095="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3557,
          "referenceAllele": "A",
          "start": 3556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000558170.6:c.3356A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454157.1:p.Gln1119="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3882,
          "referenceAllele": "A",
          "start": 3881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "ENST00000627532.2:c.3356A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487174.1:p.Gln1119="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3806,
          "referenceAllele": "A",
          "start": 3805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "NM_001171653.1:c.3284A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165124.1:p.Gln1095="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066527292",
      "coordinates": [
        {
          "allele": "A",
          "end": 3878,
          "referenceAllele": "A",
          "start": 3877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "NM_014795.3:c.3356A="
      ],
      "proteinEffect": {
        "hgvs": "NP_055610.1:p.Gln1119="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3482,
          "referenceAllele": "A",
          "start": 3481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "XM_006712881.2:c.3356A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712944.1:p.Gln1119="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3564,
          "referenceAllele": "A",
          "start": 3563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "XM_006712882.2:c.3356A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712945.1:p.Gln1119="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3362,
          "referenceAllele": "A",
          "start": 3361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "XM_011512231.1:c.3347A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510533.1:p.Gln1116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3738,
          "referenceAllele": "A",
          "start": 3737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "XM_011512232.1:c.3335A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510534.1:p.Gln1112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066527292",
      "coordinates": [
        {
          "allele": "A",
          "end": 3606,
          "referenceAllele": "A",
          "start": 3605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "NM_014795.4:c.3356A="
      ],
      "proteinEffect": {
        "hgvs": "NP_055610.1:p.Gln1119="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668501",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000627532.3:c.3356A="
          },
          "RefSeq": {
            "hgvs": "NM_014795.4:c.3356A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000487174.1:p.Gln1119="
          },
          "RefSeq": {
            "hgvs": "NP_055610.1:p.Gln1119="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3534,
          "referenceAllele": "A",
          "start": 3533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014881",
      "geneNCBI_id": 9839,
      "geneSymbol": "ZEB2",
      "hgvs": [
        "NM_001171653.2:c.3284A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165124.1:p.Gln1095="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678702"
    }
  ],
  "type": "nucleotide"
}