Canonical Allele Identifier: CA357230734
Gene: COQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1445075513
gnomAD v2: 4-84200252-T-C
gnomAD v4: 4-83279099-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.83279099T>C , CM000666.2:g.83279099T>C GRCh38
NC_000004.11:g.84200252T>C , CM000666.1:g.84200252T>C GRCh37
NC_000004.10:g.84419276T>C NCBI36
NG_015825.1:g.10816A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311469.9:c.419A>G ENSP00000310873.4:p.Tyr140Cys
ENST00000647002.2:c.269A>G MANE Select ENSP00000495761.2:p.Tyr90Cys
ENST00000311461.7:c.269A>G ENSP00000311835.7:p.Tyr90Cys
ENST00000311469.8:c.419A>G ENSP00000310873.4:p.Tyr140Cys
ENST00000503391.5:c.269A>G ENSP00000426242.1:p.Tyr90Cys
ENST00000514935.1:n.181A>G
NM_015697.7:c.419A>G NP_056512.5:p.Tyr140Cys
XM_011531855.1:c.419A>G XP_011530157.1:p.Tyr140Cys
XM_011531856.1:c.419A>G XP_011530158.1:p.Tyr140Cys
XM_011531857.1:c.419A>G XP_011530159.1:p.Tyr140Cys
XM_011531858.1:c.419A>G XP_011530160.1:p.Tyr140Cys
XM_011531859.1:c.419A>G XP_011530161.1:p.Tyr140Cys
XM_011531860.1:c.419A>G XP_011530162.1:p.Tyr140Cys
XM_011531861.1:c.419A>G XP_011530163.1:p.Tyr140Cys
XM_011531862.1:c.419A>G XP_011530164.1:p.Tyr140Cys
XM_011531863.1:c.419A>G XP_011530165.1:p.Tyr140Cys
XM_011531864.1:c.419A>G XP_011530166.1:p.Tyr140Cys
XM_011531865.1:c.419A>G XP_011530167.1:p.Tyr140Cys
XM_011531866.1:c.419A>G XP_011530168.1:p.Tyr140Cys
XM_011531867.1:c.65A>G XP_011530169.1:p.Tyr22Cys
XR_427543.2:n.578A>G
XR_938721.1:n.594A>G
NM_001358921.1:c.269A>G NP_001345850.1:p.Tyr90Cys
NM_015697.8:c.419A>G NP_056512.5:p.Tyr140Cys
XM_011531855.3:c.269A>G XP_011530157.2:p.Tyr90Cys
XM_011531857.3:c.269A>G XP_011530159.2:p.Tyr90Cys
XM_011531859.3:c.269A>G XP_011530161.2:p.Tyr90Cys
XM_011531860.3:c.269A>G XP_011530162.2:p.Tyr90Cys
XM_011531862.3:c.269A>G XP_011530164.2:p.Tyr90Cys
XM_011531863.3:c.269A>G XP_011530165.2:p.Tyr90Cys
XM_011531866.3:c.269A>G XP_011530168.2:p.Tyr90Cys
XM_011531867.3:c.65A>G XP_011530169.1:p.Tyr22Cys
XM_017008031.2:c.65A>G XP_016863520.1:p.Tyr22Cys
XR_001741203.2:n.300A>G
XR_001741204.2:n.300A>G
XR_427543.4:n.300A>G
XR_938721.3:n.300A>G
NM_001358921.2:c.269A>G MANE Select NP_001345850.1:p.Tyr90Cys
NM_015697.9:c.419A>G NP_056512.5:p.Tyr140Cys