{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1628088978",
  "communityStandardTitle": [
    "NM_003221.4(TFAP2B):c.822-1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338916",
        "rs": 80338916
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 50837974,
          "referenceAllele": "G",
          "start": 50837973
        }
      ],
      "hgvs": [
        "NC_000006.12:g.50837974G=",
        "CM000668.2:g.50837974G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 50805687,
          "referenceAllele": "G",
          "start": 50805686
        }
      ],
      "hgvs": [
        "NC_000006.11:g.50805687G=",
        "CM000668.1:g.50805687G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 50913646,
          "referenceAllele": "G",
          "start": 50913645
        }
      ],
      "hgvs": [
        "NC_000006.10:g.50913646G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 24249,
          "referenceAllele": "G",
          "start": 24248
        }
      ],
      "hgvs": [
        "NG_008438.1:g.24249G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001100"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 842,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011743",
      "geneNCBI_id": 7021,
      "geneSymbol": "TFAP2B",
      "hgvs": [
        "ENST00000393655.4:c.822-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377265.2:n.822-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753151",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393655.4:c.822-1G="
          },
          "RefSeq": {
            "hgvs": "NM_003221.4:c.822-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377265.2:n.822-1G="
          },
          "RefSeq": {
            "hgvs": "NP_003212.2:n.822-1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 990,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 990,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011743",
      "geneNCBI_id": 7021,
      "geneSymbol": "TFAP2B",
      "hgvs": [
        "ENST00000393655.3:c.822-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377265.2:n.822-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 987,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 987,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011743",
      "geneNCBI_id": 7021,
      "geneSymbol": "TFAP2B",
      "hgvs": [
        "NM_003221.3:c.822-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003212.2:n.822-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1048,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1048,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011743",
      "geneNCBI_id": 7021,
      "geneSymbol": "TFAP2B",
      "hgvs": [
        "XM_006715176.2:c.822-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715239.1:n.822-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1307,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1307,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011743",
      "geneNCBI_id": 7021,
      "geneSymbol": "TFAP2B",
      "hgvs": [
        "XM_006715177.2:c.768-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715240.1:n.768-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1051,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1051,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011743",
      "geneNCBI_id": 7021,
      "geneSymbol": "TFAP2B",
      "hgvs": [
        "XM_011514834.1:c.849-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513136.1:n.849-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082056"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1604,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1604,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011743",
      "geneNCBI_id": 7021,
      "geneSymbol": "TFAP2B",
      "hgvs": [
        "XM_011514835.1:c.849-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513137.1:n.849-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082057"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1270,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1270,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011743",
      "geneNCBI_id": 7021,
      "geneSymbol": "TFAP2B",
      "hgvs": [
        "XM_011514836.1:c.849-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513138.1:n.849-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082058"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1267,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1267,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011743",
      "geneNCBI_id": 7021,
      "geneSymbol": "TFAP2B",
      "hgvs": [
        "XM_011514837.1:c.849-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513139.1:n.849-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1292,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1292,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011743",
      "geneNCBI_id": 7021,
      "geneSymbol": "TFAP2B",
      "hgvs": [
        "XM_011514837.2:c.849-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513139.1:n.849-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1668,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1668,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011743",
      "geneNCBI_id": 7021,
      "geneSymbol": "TFAP2B",
      "hgvs": [
        "XM_017011233.1:c.987-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866722.1:n.987-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1121,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1121,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011743",
      "geneNCBI_id": 7021,
      "geneSymbol": "TFAP2B",
      "hgvs": [
        "XM_017011234.1:c.951-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866723.1:n.951-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 801,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 801,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011743",
      "geneNCBI_id": 7021,
      "geneSymbol": "TFAP2B",
      "hgvs": [
        "XM_017011235.2:c.363-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866724.1:n.363-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 842,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011743",
      "geneNCBI_id": 7021,
      "geneSymbol": "TFAP2B",
      "hgvs": [
        "NM_003221.4:c.822-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003212.2:n.822-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665936",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393655.4:c.822-1G="
          },
          "RefSeq": {
            "hgvs": "NM_003221.4:c.822-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377265.2:n.822-1G="
          },
          "RefSeq": {
            "hgvs": "NP_003212.2:n.822-1G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}