{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2988596",
  "communityStandardTitle": [
    "NM_001358921.2(COQ2):c.451G>A (p.Ala151Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1416502[alleleid]",
        "alleleId": 1416502,
        "preferredName": "NM_001358921.2(COQ2):c.451G>A (p.Ala151Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1449446",
        "RCV": [
          "RCV002004606",
          "RCV002497855"
        ],
        "variationId": 1449446
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-84194740-C-T",
        "id": "4-84194740-C-T",
        "variant": "4:84194740 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.84194740C>T?assembly=hg19",
        "id": "chr4:g.84194740C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.83273587C>T?assembly=hg38",
        "id": "chr4:g.83273587C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/372949213",
        "rs": 372949213
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-84194740-C-T?dataset=gnomad_r2_1",
        "id": "4-84194740-C-T",
        "variant": "4:84194740 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-83273587-C-T?dataset=gnomad_r3",
        "id": "4-83273587-C-T",
        "variant": "4:83273587 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-83273587-C-T?dataset=gnomad_r4",
        "id": "4-83273587-C-T",
        "variant": "4:83273587 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 83273587,
          "referenceAllele": "C",
          "start": 83273586
        }
      ],
      "hgvs": [
        "NC_000004.12:g.83273587C>T",
        "CM000666.2:g.83273587C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 84194740,
          "referenceAllele": "C",
          "start": 84194739
        }
      ],
      "hgvs": [
        "NC_000004.11:g.84194740C>T",
        "CM000666.1:g.84194740C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 84413764,
          "referenceAllele": "C",
          "start": 84413763
        }
      ],
      "hgvs": [
        "NC_000004.10:g.84413764C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16328,
          "referenceAllele": "G",
          "start": 16327
        }
      ],
      "hgvs": [
        "NG_015825.1:g.16328G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 601,
          "referenceAllele": "G",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000311469.9:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310873.4:p.Ala201Thr",
        "hgvsWellDefined": "ENSP00000310873.4:p.Ala201Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "referenceAllele": "G",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000647002.2:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495761.2:p.Ala151Thr",
        "hgvsWellDefined": "ENSP00000495761.2:p.Ala151Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647002.2:c.451G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001358921.2:c.451G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495761.2:p.Ala151Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001345850.1:p.Ala151Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 452,
          "referenceAllele": "G",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000311461.7:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311835.7:p.Ala151Thr",
        "hgvsWellDefined": "ENSP00000311835.7:p.Ala151Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 601,
          "referenceAllele": "G",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000311469.8:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310873.4:p.Ala201Thr",
        "hgvsWellDefined": "ENSP00000310873.4:p.Ala201Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000503391.5:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426242.1:p.Ala151Thr",
        "hgvsWellDefined": "ENSP00000426242.1:p.Ala151Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 142,
          "referenceAllele": "G",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000503915.5:c.142G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427146.1:p.Ala48Thr",
        "hgvsWellDefined": "ENSP00000427146.1:p.Ala48Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 363,
          "referenceAllele": "G",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000514935.1:n.363G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344296"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573265199",
      "coordinates": [
        {
          "allele": "A",
          "end": 601,
          "referenceAllele": "G",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "NM_015697.7:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056512.5:p.Ala201Thr",
        "hgvsWellDefined": "NP_056512.5:p.Ala201Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531855.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530157.1:p.Ala201Thr",
        "hgvsWellDefined": "XP_011530157.1:p.Ala201Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531856.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530158.1:p.Ala201Thr",
        "hgvsWellDefined": "XP_011530158.1:p.Ala201Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531857.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530159.1:p.Ala201Thr",
        "hgvsWellDefined": "XP_011530159.1:p.Ala201Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531858.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530160.1:p.Ala201Thr",
        "hgvsWellDefined": "XP_011530160.1:p.Ala201Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531859.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530161.1:p.Ala201Thr",
        "hgvsWellDefined": "XP_011530161.1:p.Ala201Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531860.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530162.1:p.Ala201Thr",
        "hgvsWellDefined": "XP_011530162.1:p.Ala201Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531861.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530163.1:p.Ala201Thr",
        "hgvsWellDefined": "XP_011530163.1:p.Ala201Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531862.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530164.1:p.Ala201Thr",
        "hgvsWellDefined": "XP_011530164.1:p.Ala201Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 766,
          "referenceAllele": "G",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531863.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530165.1:p.Ala201Thr",
        "hgvsWellDefined": "XP_011530165.1:p.Ala201Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 766,
          "referenceAllele": "G",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531864.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530166.1:p.Ala201Thr",
        "hgvsWellDefined": "XP_011530166.1:p.Ala201Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098895"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 765,
          "referenceAllele": "G",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531865.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530167.1:p.Ala201Thr",
        "hgvsWellDefined": "XP_011530167.1:p.Ala201Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098896"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "referenceAllele": "G",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531866.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530168.1:p.Ala201Thr",
        "hgvsWellDefined": "XP_011530168.1:p.Ala201Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531867.1:c.247G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530169.1:p.Ala83Thr",
        "hgvsWellDefined": "XP_011530169.1:p.Ala83Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 760,
          "referenceAllele": "G",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_427543.2:n.760G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 776,
          "referenceAllele": "G",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_938721.1:n.776G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133419"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828057561",
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "NM_001358921.1:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001345850.1:p.Ala151Thr",
        "hgvsWellDefined": "NP_001345850.1:p.Ala151Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522973"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573265199",
      "coordinates": [
        {
          "allele": "A",
          "end": 821,
          "referenceAllele": "G",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "NM_015697.8:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056512.5:p.Ala201Thr",
        "hgvsWellDefined": "NP_056512.5:p.Ala201Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531855.3:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530157.2:p.Ala151Thr",
        "hgvsWellDefined": "XP_011530157.2:p.Ala151Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550584"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531857.3:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530159.2:p.Ala151Thr",
        "hgvsWellDefined": "XP_011530159.2:p.Ala151Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550585"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531859.3:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530161.2:p.Ala151Thr",
        "hgvsWellDefined": "XP_011530161.2:p.Ala151Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550586"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531860.3:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530162.2:p.Ala151Thr",
        "hgvsWellDefined": "XP_011530162.2:p.Ala151Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531862.3:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530164.2:p.Ala151Thr",
        "hgvsWellDefined": "XP_011530164.2:p.Ala151Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550588"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531863.3:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530165.2:p.Ala151Thr",
        "hgvsWellDefined": "XP_011530165.2:p.Ala151Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550589"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531866.3:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530168.2:p.Ala151Thr",
        "hgvsWellDefined": "XP_011530168.2:p.Ala151Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1407,
          "referenceAllele": "G",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531867.3:c.247G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530169.1:p.Ala83Thr",
        "hgvsWellDefined": "XP_011530169.1:p.Ala83Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1390,
          "referenceAllele": "G",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_017008031.2:c.247G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863520.1:p.Ala83Thr",
        "hgvsWellDefined": "XP_016863520.1:p.Ala83Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_001741203.2:n.482G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_001741204.2:n.482G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_427543.4:n.482G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606450"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_938721.3:n.482G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828057561",
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "referenceAllele": "G",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "NM_001358921.2:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001345850.1:p.Ala151Thr",
        "hgvsWellDefined": "NP_001345850.1:p.Ala151Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647002.2:c.451G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001358921.2:c.451G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495761.2:p.Ala151Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001345850.1:p.Ala151Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573265199",
      "coordinates": [
        {
          "allele": "A",
          "end": 821,
          "referenceAllele": "G",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "NM_015697.9:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056512.5:p.Ala201Thr",
        "hgvsWellDefined": "NP_056512.5:p.Ala201Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728105"
    }
  ],
  "type": "nucleotide"
}