{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1472709124", "communityStandardTitle": [ "NM_001358921.2(COQ2):c.740A= (p.Tyr247=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121918230", "rs": 121918230 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 83269882, "referenceAllele": "T", "start": 83269881 } ], "hgvs": [ "NC_000004.12:g.83269882T=", "CM000666.2:g.83269882T=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 84191035, "referenceAllele": "T", "start": 84191034 } ], "hgvs": [ "NC_000004.11:g.84191035T=", "CM000666.1:g.84191035T=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 84410059, "referenceAllele": "T", "start": 84410058 } ], "hgvs": [ "NC_000004.10:g.84410059T=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 20033, "referenceAllele": "A", "start": 20032 } ], "hgvs": [ "NG_015825.1:g.20033A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS002857" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 890, "referenceAllele": "A", "start": 889 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "ENST00000311469.9:c.890A=" ], "proteinEffect": { "hgvs": "ENSP00000310873.4:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS745720" }, { "coordinates": [ { "allele": "A", "end": 774, "referenceAllele": "A", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "ENST00000647002.2:c.740A=" ], "proteinEffect": { "hgvs": "ENSP00000495761.2:p.Tyr247=" }, "referenceSequence": "http://reg.genome.network/refseq/RS769181", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647002.2:c.740A=" }, "RefSeq": { "hgvs": "NM_001358921.2:c.740A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495761.2:p.Tyr247=" }, "RefSeq": { "hgvs": "NP_001345850.1:p.Tyr247=" } } } }, { "coordinates": [ { "allele": "A", "end": 741, "referenceAllele": "A", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "ENST00000311461.7:c.740A=" ], "proteinEffect": { "hgvs": "ENSP00000311835.7:p.Tyr247=" }, "referenceSequence": "http://reg.genome.network/refseq/RS256532" }, { "coordinates": [ { "allele": "A", "end": 890, "referenceAllele": "A", "start": 889 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "ENST00000311469.8:c.890A=" ], "proteinEffect": { "hgvs": "ENSP00000310873.4:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS256533" }, { "coordinates": [ { "allele": "A", "end": 659, "endIntronDirection": "-", "endIntronOffset": 2107, "referenceAllele": "A", "start": 659, "startIntronDirection": "-", "startIntronOffset": 2108 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "ENST00000503391.5:c.629-2108A=" ], "proteinEffect": { "hgvs": "ENSP00000426242.1:n.629-2108A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS335714" }, { "coordinates": [ { "allele": "A", "end": 431, "referenceAllele": "A", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "ENST00000503915.5:c.431A=" ], "proteinEffect": { "hgvs": "ENSP00000427146.1:p.Tyr144=" }, "referenceSequence": "http://reg.genome.network/refseq/RS336123" }, { "@id": "http://reg.genome.network/allele/PA3069888386", "coordinates": [ { "allele": "A", "end": 890, "referenceAllele": "A", "start": 889 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "NM_015697.7:c.890A=" ], "proteinEffect": { "hgvs": "NP_056512.5:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS034203" }, { "coordinates": [ { "allele": "A", "end": 1061, "referenceAllele": "A", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531855.1:c.890A=" ], "proteinEffect": { "hgvs": "XP_011530157.1:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS098886" }, { "coordinates": [ { "allele": "A", "end": 1060, "referenceAllele": "A", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531856.1:c.890A=" ], "proteinEffect": { "hgvs": "XP_011530158.1:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS098887" }, { "coordinates": [ { "allele": "A", "end": 1060, "referenceAllele": "A", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531857.1:c.890A=" ], "proteinEffect": { "hgvs": "XP_011530159.1:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS098888" }, { "coordinates": [ { "allele": "A", "end": 1059, "referenceAllele": "A", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531858.1:c.890A=" ], "proteinEffect": { "hgvs": "XP_011530160.1:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS098889" }, { "coordinates": [ { "allele": "A", "end": 1059, "referenceAllele": "A", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531859.1:c.890A=" ], "proteinEffect": { "hgvs": "XP_011530161.1:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS098890" }, { "coordinates": [ { "allele": "A", "end": 1058, "referenceAllele": "A", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531860.1:c.890A=" ], "proteinEffect": { "hgvs": "XP_011530162.1:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS098891" }, { "coordinates": [ { "allele": "A", "end": 1058, "referenceAllele": "A", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531861.1:c.890A=" ], "proteinEffect": { "hgvs": "XP_011530163.1:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS098892" }, { "coordinates": [ { "allele": "A", "end": 1058, "referenceAllele": "A", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531862.1:c.890A=" ], "proteinEffect": { "hgvs": "XP_011530164.1:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS098893" }, { "coordinates": [ { "allele": "A", "end": 1055, "referenceAllele": "A", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531863.1:c.890A=" ], "proteinEffect": { "hgvs": "XP_011530165.1:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS098894" }, { "coordinates": [ { "allele": "A", "end": 1055, "referenceAllele": "A", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531864.1:c.890A=" ], "proteinEffect": { "hgvs": "XP_011530166.1:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS098895" }, { "coordinates": [ { "allele": "A", "end": 1054, "referenceAllele": "A", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531865.1:c.890A=" ], "proteinEffect": { "hgvs": "XP_011530167.1:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS098896" }, { "coordinates": [ { "allele": "A", "end": 1052, "referenceAllele": "A", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531866.1:c.890A=" ], "proteinEffect": { "hgvs": "XP_011530168.1:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS098897" }, { "coordinates": [ { "allele": "A", "end": 1013, "referenceAllele": "A", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531867.1:c.536A=" ], "proteinEffect": { "hgvs": "XP_011530169.1:p.Tyr179=" }, "referenceSequence": "http://reg.genome.network/refseq/RS098898" }, { "coordinates": [ { "allele": "A", "end": 1049, "referenceAllele": "A", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XR_427543.2:n.1049A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS117769" }, { "coordinates": [ { "allele": "A", "end": 1060, "referenceAllele": "A", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XR_938721.1:n.1060A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS133419" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "A", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "NM_001358921.1:c.740A=" ], "proteinEffect": { "hgvs": "NP_001345850.1:p.Tyr247=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522973" }, { "@id": "http://reg.genome.network/allele/PA3069888386", "coordinates": [ { "allele": "A", "end": 1110, "referenceAllele": "A", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "NM_015697.8:c.890A=" ], "proteinEffect": { "hgvs": "NP_056512.5:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS525710" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "A", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531855.3:c.740A=" ], "proteinEffect": { "hgvs": "XP_011530157.2:p.Tyr247=" }, "referenceSequence": "http://reg.genome.network/refseq/RS550584" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "A", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531857.3:c.740A=" ], "proteinEffect": { "hgvs": "XP_011530159.2:p.Tyr247=" }, "referenceSequence": "http://reg.genome.network/refseq/RS550585" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "A", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531859.3:c.740A=" ], "proteinEffect": { "hgvs": "XP_011530161.2:p.Tyr247=" }, "referenceSequence": "http://reg.genome.network/refseq/RS550586" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "A", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531860.3:c.740A=" ], "proteinEffect": { "hgvs": "XP_011530162.2:p.Tyr247=" }, "referenceSequence": "http://reg.genome.network/refseq/RS550587" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "A", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531862.3:c.740A=" ], "proteinEffect": { "hgvs": "XP_011530164.2:p.Tyr247=" }, "referenceSequence": "http://reg.genome.network/refseq/RS550588" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "A", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531863.3:c.740A=" ], "proteinEffect": { "hgvs": "XP_011530165.2:p.Tyr247=" }, "referenceSequence": "http://reg.genome.network/refseq/RS550589" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "A", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531866.3:c.740A=" ], "proteinEffect": { "hgvs": "XP_011530168.2:p.Tyr247=" }, "referenceSequence": "http://reg.genome.network/refseq/RS550590" }, { "coordinates": [ { "allele": "A", "end": 1696, "referenceAllele": "A", "start": 1695 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_011531867.3:c.536A=" ], "proteinEffect": { "hgvs": "XP_011530169.1:p.Tyr179=" }, "referenceSequence": "http://reg.genome.network/refseq/RS550591" }, { "coordinates": [ { "allele": "A", "end": 1679, "referenceAllele": "A", "start": 1678 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_017008031.2:c.536A=" ], "proteinEffect": { "hgvs": "XP_016863520.1:p.Tyr179=" }, "referenceSequence": "http://reg.genome.network/refseq/RS562642" }, { "coordinates": [ { "allele": "A", "end": 283, "referenceAllele": "A", "start": 282 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XM_017008032.2:c.149A=" ], "proteinEffect": { "hgvs": "XP_016863521.1:p.Tyr50=" }, "referenceSequence": "http://reg.genome.network/refseq/RS562643" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "A", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XR_001741203.2:n.771A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS591241" }, { "coordinates": [ { "allele": "A", "end": 766, "referenceAllele": "A", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XR_001741204.2:n.766A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS591242" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "A", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XR_427543.4:n.771A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS606450" }, { "coordinates": [ { "allele": "A", "end": 766, "referenceAllele": "A", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "XR_938721.3:n.766A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS612031" }, { "coordinates": [ { "allele": "A", "end": 774, "referenceAllele": "A", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "NM_001358921.2:c.740A=" ], "proteinEffect": { "hgvs": "NP_001345850.1:p.Tyr247=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690486", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647002.2:c.740A=" }, "RefSeq": { "hgvs": "NM_001358921.2:c.740A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495761.2:p.Tyr247=" }, "RefSeq": { "hgvs": "NP_001345850.1:p.Tyr247=" } } } }, { "@id": "http://reg.genome.network/allele/PA3069888386", "coordinates": [ { "allele": "A", "end": 1110, "referenceAllele": "A", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN025223", "geneNCBI_id": 27235, "geneSymbol": "COQ2", "hgvs": [ "NM_015697.9:c.890A=" ], "proteinEffect": { "hgvs": "NP_056512.5:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS728105" } ], "type": "nucleotide" }