{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7440216",
  "communityStandardTitle": [
    "NM_004667.6(HERC2):c.12801T>A (p.Asp4267Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=243992[alleleid]",
        "alleleId": 243992,
        "preferredName": "NM_004667.6(HERC2):c.12801T>A (p.Asp4267Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242878",
        "RCV": [
          "RCV000490894",
          "RCV000454954",
          "RCV000623625"
        ],
        "variationId": 242878
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-28375310-A-T",
        "id": "15-28375310-A-T",
        "variant": "15:28375310 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.28375310A>T?assembly=hg19",
        "id": "chr15:g.28375310A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.28130164A>T?assembly=hg38",
        "id": "chr15:g.28130164A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/373175587",
        "rs": 373175587
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-28375310-A-T?dataset=gnomad_r2_1",
        "id": "15-28375310-A-T",
        "variant": "15:28375310 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-28130164-A-T?dataset=gnomad_r3",
        "id": "15-28130164-A-T",
        "variant": "15:28130164 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-28130164-A-T?dataset=gnomad_r4",
        "id": "15-28130164-A-T",
        "variant": "15:28130164 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 28130164,
          "referenceAllele": "A",
          "start": 28130163
        }
      ],
      "hgvs": [
        "NC_000015.10:g.28130164A>T",
        "CM000677.2:g.28130164A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 28375310,
          "referenceAllele": "A",
          "start": 28375309
        }
      ],
      "hgvs": [
        "NC_000015.9:g.28375310A>T",
        "CM000677.1:g.28375310A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 26048905,
          "referenceAllele": "A",
          "start": 26048904
        }
      ],
      "hgvs": [
        "NC_000015.8:g.26048905A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 196986,
          "referenceAllele": "T",
          "start": 196985
        }
      ],
      "hgvs": [
        "NG_016355.1:g.196986T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003118"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12937,
          "referenceAllele": "T",
          "start": 12936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "ENST00000261609.13:c.12801T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261609.8:p.Asp4267Glu",
        "hgvsWellDefined": "ENSP00000261609.8:p.Asp4267Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742172",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261609.13:c.12801T>A"
          },
          "RefSeq": {
            "hgvs": "NM_004667.6:c.12801T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261609.8:p.Asp4267Glu"
          },
          "RefSeq": {
            "hgvs": "NP_004658.3:p.Asp4267Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4281,
          "endIntronDirection": "+",
          "endIntronOffset": 1936,
          "referenceAllele": "T",
          "start": 4281,
          "startIntronDirection": "+",
          "startIntronOffset": 1935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "ENST00000650509.1:c.4281+1936T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496936.1:n.4281+1936T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12910,
          "referenceAllele": "T",
          "start": 12909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "ENST00000261609.11:c.12801T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261609.7:p.Asp4267Glu",
        "hgvsWellDefined": "ENSP00000261609.7:p.Asp4267Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645427993",
      "coordinates": [
        {
          "allele": "A",
          "end": 12910,
          "referenceAllele": "T",
          "start": 12909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "NM_004667.5:c.12801T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004658.3:p.Asp4267Glu",
        "hgvsWellDefined": "NP_004658.3:p.Asp4267Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12818,
          "referenceAllele": "T",
          "start": 12817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "XM_005268276.3:c.12687T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268333.1:p.Asp4229Glu",
        "hgvsWellDefined": "XP_005268333.1:p.Asp4229Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12944,
          "referenceAllele": "T",
          "start": 12943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "XM_005268277.3:c.12687T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268334.1:p.Asp4229Glu",
        "hgvsWellDefined": "XP_005268334.1:p.Asp4229Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12914,
          "referenceAllele": "T",
          "start": 12913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "XM_006720726.2:c.12786T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720789.1:p.Asp4262Glu",
        "hgvsWellDefined": "XP_006720789.1:p.Asp4262Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12671,
          "referenceAllele": "T",
          "start": 12670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "XM_006720727.2:c.12543T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720790.1:p.Asp4181Glu",
        "hgvsWellDefined": "XP_006720790.1:p.Asp4181Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12406,
          "referenceAllele": "T",
          "start": 12405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "XM_011522131.1:c.12318T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520433.1:p.Asp4106Glu",
        "hgvsWellDefined": "XP_011520433.1:p.Asp4106Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089288"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10472,
          "referenceAllele": "T",
          "start": 10471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "XM_011522132.1:c.10317T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520434.1:p.Asp3439Glu",
        "hgvsWellDefined": "XP_011520434.1:p.Asp3439Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089289"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9674,
          "referenceAllele": "T",
          "start": 9673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "XM_011522133.1:c.9546T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520435.1:p.Asp3182Glu",
        "hgvsWellDefined": "XP_011520435.1:p.Asp3182Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089290"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7034,
          "referenceAllele": "T",
          "start": 7033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "XM_011522134.1:c.6918T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520436.1:p.Asp2306Glu",
        "hgvsWellDefined": "XP_011520436.1:p.Asp2306Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13043,
          "referenceAllele": "T",
          "start": 13042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "XM_005268276.5:c.12687T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268333.1:p.Asp4229Glu",
        "hgvsWellDefined": "XP_005268333.1:p.Asp4229Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12916,
          "referenceAllele": "T",
          "start": 12915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "XM_006720726.3:c.12786T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720789.1:p.Asp4262Glu",
        "hgvsWellDefined": "XP_006720789.1:p.Asp4262Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12673,
          "referenceAllele": "T",
          "start": 12672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "XM_006720727.3:c.12543T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720790.1:p.Asp4181Glu",
        "hgvsWellDefined": "XP_006720790.1:p.Asp4181Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12857,
          "referenceAllele": "T",
          "start": 12856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "XM_017022695.1:c.12687T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878184.1:p.Asp4229Glu",
        "hgvsWellDefined": "XP_016878184.1:p.Asp4229Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12800,
          "referenceAllele": "T",
          "start": 12799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "XM_017022696.1:c.12687T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878185.1:p.Asp4229Glu",
        "hgvsWellDefined": "XP_016878185.1:p.Asp4229Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6239,
          "referenceAllele": "T",
          "start": 6238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "XM_017022697.1:c.5967T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878186.1:p.Asp1989Glu",
        "hgvsWellDefined": "XP_016878186.1:p.Asp1989Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573606"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6150,
          "referenceAllele": "T",
          "start": 6149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "XM_017022698.1:c.5967T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878187.1:p.Asp1989Glu",
        "hgvsWellDefined": "XP_016878187.1:p.Asp1989Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645427993",
      "coordinates": [
        {
          "allele": "A",
          "end": 12937,
          "referenceAllele": "T",
          "start": 12936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004868",
      "geneNCBI_id": 8924,
      "geneSymbol": "HERC2",
      "hgvs": [
        "NM_004667.6:c.12801T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004658.3:p.Asp4267Glu",
        "hgvsWellDefined": "NP_004658.3:p.Asp4267Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261609.13:c.12801T>A"
          },
          "RefSeq": {
            "hgvs": "NM_004667.6:c.12801T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261609.8:p.Asp4267Glu"
          },
          "RefSeq": {
            "hgvs": "NP_004658.3:p.Asp4267Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}