{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1278368554",
  "communityStandardTitle": [
    "NM_022336.4(EDAR):c.266G= (p.Arg89=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908450",
        "rs": 121908450
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 108929288,
          "referenceAllele": "C",
          "start": 108929287
        }
      ],
      "hgvs": [
        "NC_000002.12:g.108929288C=",
        "CM000664.2:g.108929288C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 109545744,
          "referenceAllele": "C",
          "start": 109545743
        }
      ],
      "hgvs": [
        "NC_000002.11:g.109545744C=",
        "CM000664.1:g.109545744C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 108912176,
          "referenceAllele": "C",
          "start": 108912175
        }
      ],
      "hgvs": [
        "NC_000002.10:g.108912176C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 65085,
          "referenceAllele": "G",
          "start": 65084
        }
      ],
      "hgvs": [
        "NG_008257.1:g.65085G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000983"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "referenceAllele": "G",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "ENST00000258443.7:c.266G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258443.2:p.Arg89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741912",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258443.7:c.266G="
          },
          "RefSeq": {
            "hgvs": "NM_022336.4:c.266G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258443.2:p.Arg89="
          },
          "RefSeq": {
            "hgvs": "NP_071731.1:p.Arg89="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "ENST00000258443.6:c.266G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258443.2:p.Arg89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "ENST00000376651.1:c.266G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365839.1:p.Arg89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 710,
          "referenceAllele": "G",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "ENST00000409271.5:c.266G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386371.1:p.Arg89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526851",
      "coordinates": [
        {
          "allele": "G",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "NM_022336.3:c.266G="
      ],
      "proteinEffect": {
        "hgvs": "NP_071731.1:p.Arg89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037269"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 581,
          "referenceAllele": "G",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_006712204.1:c.266G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712267.1:p.Arg89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069518"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "G",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510502.1:c.317G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508804.1:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077766"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "G",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510503.1:c.317G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508805.1:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510502.2:c.410G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508804.2:p.Arg137="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 453,
          "referenceAllele": "G",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510503.2:c.410G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508805.2:p.Arg137="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8531,
          "endIntronDirection": "+",
          "endIntronOffset": 156242,
          "referenceAllele": "C",
          "start": 8531,
          "startIntronDirection": "+",
          "startIntronOffset": 156241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009848",
      "geneNCBI_id": 5903,
      "geneSymbol": "RANBP2",
      "hgvs": [
        "XM_017004623.2:c.8370+156242C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860112.1:n.8370+156242C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560085"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526851",
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "referenceAllele": "G",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "NM_022336.4:c.266G="
      ],
      "proteinEffect": {
        "hgvs": "NP_071731.1:p.Arg89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670410",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258443.7:c.266G="
          },
          "RefSeq": {
            "hgvs": "NM_022336.4:c.266G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258443.2:p.Arg89="
          },
          "RefSeq": {
            "hgvs": "NP_071731.1:p.Arg89="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}