{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1472709117",
  "communityStandardTitle": [
    "NM_001358921.2(COQ2):c.755C= (p.Ala252=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/762616589",
        "rs": 762616589
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 83269867,
          "referenceAllele": "G",
          "start": 83269866
        }
      ],
      "hgvs": [
        "NC_000004.12:g.83269867G=",
        "CM000666.2:g.83269867G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 84191020,
          "referenceAllele": "G",
          "start": 84191019
        }
      ],
      "hgvs": [
        "NC_000004.11:g.84191020G=",
        "CM000666.1:g.84191020G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 84410044,
          "referenceAllele": "G",
          "start": 84410043
        }
      ],
      "hgvs": [
        "NC_000004.10:g.84410044G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20048,
          "referenceAllele": "C",
          "start": 20047
        }
      ],
      "hgvs": [
        "NG_015825.1:g.20048C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000311469.9:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310873.4:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745720"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "referenceAllele": "C",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000647002.2:c.755C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495761.2:p.Ala252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647002.2:c.755C="
          },
          "RefSeq": {
            "hgvs": "NM_001358921.2:c.755C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495761.2:p.Ala252="
          },
          "RefSeq": {
            "hgvs": "NP_001345850.1:p.Ala252="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000311461.7:c.755C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311835.7:p.Ala252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000311469.8:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310873.4:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 659,
          "endIntronDirection": "-",
          "endIntronOffset": 2092,
          "referenceAllele": "C",
          "start": 659,
          "startIntronDirection": "-",
          "startIntronOffset": 2093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000503391.5:c.629-2093C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426242.1:n.629-2093C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335714"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "ENST00000503915.5:c.446C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427146.1:p.Ala149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070111844",
      "coordinates": [
        {
          "allele": "C",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "NM_015697.7:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "NP_056512.5:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034203"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531855.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530157.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1075,
          "referenceAllele": "C",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531856.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530158.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1075,
          "referenceAllele": "C",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531857.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530159.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531858.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530160.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531859.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530161.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1073,
          "referenceAllele": "C",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531860.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530162.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1073,
          "referenceAllele": "C",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531861.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530163.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1073,
          "referenceAllele": "C",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531862.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530164.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1070,
          "referenceAllele": "C",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531863.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530165.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098894"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1070,
          "referenceAllele": "C",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531864.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530166.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098895"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1069,
          "referenceAllele": "C",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531865.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530167.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098896"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1067,
          "referenceAllele": "C",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531866.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530168.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531867.1:c.551C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530169.1:p.Ala184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_427543.2:n.1064C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1075,
          "referenceAllele": "C",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_938721.1:n.1075C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "NM_001358921.1:c.755C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001345850.1:p.Ala252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522973"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070111844",
      "coordinates": [
        {
          "allele": "C",
          "end": 1125,
          "referenceAllele": "C",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "NM_015697.8:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "NP_056512.5:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531855.3:c.755C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530157.2:p.Ala252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550584"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531857.3:c.755C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530159.2:p.Ala252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550585"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531859.3:c.755C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530161.2:p.Ala252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550586"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531860.3:c.755C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530162.2:p.Ala252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550587"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531862.3:c.755C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530164.2:p.Ala252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531863.3:c.755C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530165.2:p.Ala252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550589"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531866.3:c.755C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530168.2:p.Ala252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550590"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1711,
          "referenceAllele": "C",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_011531867.3:c.551C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530169.1:p.Ala184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550591"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_017008031.2:c.551C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863520.1:p.Ala184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 298,
          "referenceAllele": "C",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XM_017008032.2:c.164C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863521.1:p.Ala55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562643"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_001741203.2:n.786C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591241"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_001741204.2:n.781C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591242"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_427543.4:n.786C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606450"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "XR_938721.3:n.781C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "referenceAllele": "C",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "NM_001358921.2:c.755C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001345850.1:p.Ala252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647002.2:c.755C="
          },
          "RefSeq": {
            "hgvs": "NM_001358921.2:c.755C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495761.2:p.Ala252="
          },
          "RefSeq": {
            "hgvs": "NP_001345850.1:p.Ala252="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070111844",
      "coordinates": [
        {
          "allele": "C",
          "end": 1125,
          "referenceAllele": "C",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025223",
      "geneNCBI_id": 27235,
      "geneSymbol": "COQ2",
      "hgvs": [
        "NM_015697.9:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "NP_056512.5:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728105"
    }
  ],
  "type": "nucleotide"
}