{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA274979",
  "communityStandardTitle": [
    "NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191278[alleleid]",
        "alleleId": 191278,
        "preferredName": "NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194115",
        "RCV": [
          "RCV000255133",
          "RCV001384049"
        ],
        "variationId": 194115
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-109513566-C-T",
        "id": "2-109513566-C-T",
        "variant": "2:109513566 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.109513566C>T?assembly=hg19",
        "id": "chr2:g.109513566C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.108897110C>T?assembly=hg38",
        "id": "chr2:g.108897110C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747806672",
        "rs": 747806672
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-109513566-C-T?dataset=gnomad_r2_1",
        "id": "2-109513566-C-T",
        "variant": "2:109513566 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-108897110-C-T?dataset=gnomad_r3",
        "id": "2-108897110-C-T",
        "variant": "2:108897110 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-108897110-C-T?dataset=gnomad_r4",
        "id": "2-108897110-C-T",
        "variant": "2:108897110 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 108897110,
          "referenceAllele": "C",
          "start": 108897109
        }
      ],
      "hgvs": [
        "NC_000002.12:g.108897110C>T",
        "CM000664.2:g.108897110C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 109513566,
          "referenceAllele": "C",
          "start": 109513565
        }
      ],
      "hgvs": [
        "NC_000002.11:g.109513566C>T",
        "CM000664.1:g.109513566C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 108879998,
          "referenceAllele": "C",
          "start": 108879997
        }
      ],
      "hgvs": [
        "NC_000002.10:g.108879998C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 97263,
          "referenceAllele": "G",
          "start": 97262
        }
      ],
      "hgvs": [
        "NG_008257.1:g.97263G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000983"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1423,
          "referenceAllele": "G",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "ENST00000258443.7:c.1144G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258443.2:p.Gly382Ser",
        "hgvsWellDefined": "ENSP00000258443.2:p.Gly382Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741912",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258443.7:c.1144G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022336.4:c.1144G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258443.2:p.Gly382Ser"
          },
          "RefSeq": {
            "hgvs": "NP_071731.1:p.Gly382Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1575,
          "referenceAllele": "G",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "ENST00000258443.6:c.1144G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258443.2:p.Gly382Ser",
        "hgvsWellDefined": "ENSP00000258443.2:p.Gly382Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1671,
          "referenceAllele": "G",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "ENST00000376651.1:c.1240G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365839.1:p.Gly414Ser",
        "hgvsWellDefined": "ENSP00000365839.1:p.Gly414Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1684,
          "referenceAllele": "G",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "ENST00000409271.5:c.1240G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386371.1:p.Gly414Ser",
        "hgvsWellDefined": "ENSP00000386371.1:p.Gly414Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110793",
      "coordinates": [
        {
          "allele": "A",
          "end": 1575,
          "referenceAllele": "G",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "NM_022336.3:c.1144G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071731.1:p.Gly382Ser",
        "hgvsWellDefined": "NP_071731.1:p.Gly382Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1555,
          "referenceAllele": "G",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_006712204.1:c.1240G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712267.1:p.Gly414Ser",
        "hgvsWellDefined": "XP_006712267.1:p.Gly414Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1315,
          "referenceAllele": "G",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510502.1:c.1291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508804.1:p.Gly431Ser",
        "hgvsWellDefined": "XP_011508804.1:p.Gly431Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1219,
          "referenceAllele": "G",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510503.1:c.1195G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508805.1:p.Gly399Ser",
        "hgvsWellDefined": "XP_011508805.1:p.Gly399Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 794,
          "referenceAllele": "G",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510504.1:c.571G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508806.1:p.Gly191Ser",
        "hgvsWellDefined": "XP_011508806.1:p.Gly191Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077768"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "referenceAllele": "G",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510502.2:c.1384G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508804.2:p.Gly462Ser",
        "hgvsWellDefined": "XP_011508804.2:p.Gly462Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1331,
          "referenceAllele": "G",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510503.2:c.1288G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508805.2:p.Gly430Ser",
        "hgvsWellDefined": "XP_011508805.2:p.Gly430Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8531,
          "endIntronDirection": "+",
          "endIntronOffset": 124064,
          "referenceAllele": "C",
          "start": 8531,
          "startIntronDirection": "+",
          "startIntronOffset": 124063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009848",
      "geneNCBI_id": 5903,
      "geneSymbol": "RANBP2",
      "hgvs": [
        "XM_017004623.2:c.8370+124064C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860112.1:n.8370+124064C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560085"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110793",
      "coordinates": [
        {
          "allele": "A",
          "end": 1423,
          "referenceAllele": "G",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "NM_022336.4:c.1144G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071731.1:p.Gly382Ser",
        "hgvsWellDefined": "NP_071731.1:p.Gly382Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670410",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258443.7:c.1144G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022336.4:c.1144G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258443.2:p.Gly382Ser"
          },
          "RefSeq": {
            "hgvs": "NP_071731.1:p.Gly382Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}