{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1472713037",
  "communityStandardTitle": [
    "NM_001358921.2(COQ2):c.395T= (p.Met132=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519348",
        "rs": 1057519348
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 83278973,
          "referenceAllele": "A",
          "start": 83278972
        }
      ],
      "hgvs": [
        "NC_000004.12:g.83278973A=",
        "CM000666.2:g.83278973A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 84200126,
          "referenceAllele": "A",
          "start": 84200125
        }
      ],
      "hgvs": [
        "NC_000004.11:g.84200126A=",
        "CM000666.1:g.84200126A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 84419150,
          "referenceAllele": "A",
          "start": 84419149
        }
      ],
      "hgvs": [
        "NC_000004.10:g.84419150A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10942,
          "referenceAllele": "T",
          "start": 10941
        }
      ],
      "hgvs": [
        "NG_015825.1:g.10942T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 545,
          "referenceAllele": "T",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000311469.9:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310873.4:p.Met182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "T",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000647002.2:c.395T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495761.2:p.Met132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647002.2:c.395T="
          },
          "RefSeq": {
            "hgvs": "NM_001358921.2:c.395T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495761.2:p.Met132="
          },
          "RefSeq": {
            "hgvs": "NP_001345850.1:p.Met132="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "referenceAllele": "T",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000311461.7:c.395T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311835.7:p.Met132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 545,
          "referenceAllele": "T",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000311469.8:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310873.4:p.Met182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000503391.5:c.395T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426242.1:p.Met132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 86,
          "referenceAllele": "T",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000503915.5:c.86T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427146.1:p.Met29="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "referenceAllele": "T",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000514935.1:n.307T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344296"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070199480",
      "coordinates": [
        {
          "allele": "T",
          "end": 545,
          "referenceAllele": "T",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "NM_015697.7:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "NP_056512.5:p.Met182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "T",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531855.1:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530157.1:p.Met182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "T",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531856.1:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530158.1:p.Met182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "T",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531857.1:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530159.1:p.Met182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "T",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531858.1:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530160.1:p.Met182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "T",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531859.1:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530161.1:p.Met182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 713,
          "referenceAllele": "T",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531860.1:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530162.1:p.Met182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 713,
          "referenceAllele": "T",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531861.1:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530163.1:p.Met182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 713,
          "referenceAllele": "T",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531862.1:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530164.1:p.Met182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "referenceAllele": "T",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531863.1:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530165.1:p.Met182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "referenceAllele": "T",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531864.1:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530166.1:p.Met182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 709,
          "referenceAllele": "T",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531865.1:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530167.1:p.Met182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "T",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531866.1:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530168.1:p.Met182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 668,
          "referenceAllele": "T",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531867.1:c.191T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530169.1:p.Met64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "referenceAllele": "T",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_427543.2:n.704T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 720,
          "referenceAllele": "T",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_938721.1:n.720T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "NM_001358921.1:c.395T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001345850.1:p.Met132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522973"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070199480",
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "T",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "NM_015697.8:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "NP_056512.5:p.Met182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531855.3:c.395T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530157.2:p.Met132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550584"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531857.3:c.395T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530159.2:p.Met132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550585"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531859.3:c.395T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530161.2:p.Met132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550586"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531860.3:c.395T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530162.2:p.Met132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531862.3:c.395T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530164.2:p.Met132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531863.3:c.395T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530165.2:p.Met132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550589"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531866.3:c.395T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530168.2:p.Met132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1351,
          "referenceAllele": "T",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531867.3:c.191T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530169.1:p.Met64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1334,
          "referenceAllele": "T",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_017008031.2:c.191T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863520.1:p.Met64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_001741203.2:n.426T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_001741204.2:n.426T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_427543.4:n.426T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_938721.3:n.426T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "T",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "NM_001358921.2:c.395T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001345850.1:p.Met132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647002.2:c.395T="
          },
          "RefSeq": {
            "hgvs": "NM_001358921.2:c.395T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495761.2:p.Met132="
          },
          "RefSeq": {
            "hgvs": "NP_001345850.1:p.Met132="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070199480",
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "T",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "NM_015697.9:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "NP_056512.5:p.Met182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728105"
    }
  ],
  "type": "nucleotide"
}