Canonical Allele Identifier: CA290420
Gene: COQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 136972
dbSNP Id: rs144913206
gnomAD v2: 4-84194767-T-C
gnomAD v3: 4-83273614-T-C
gnomAD v4: 4-83273614-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.83273614T>C , CM000666.2:g.83273614T>C GRCh38
NC_000004.11:g.84194767T>C , CM000666.1:g.84194767T>C GRCh37
NC_000004.10:g.84413791T>C NCBI36
NG_015825.1:g.16301A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311469.9:c.574A>G ENSP00000310873.4:p.Thr192Ala
ENST00000647002.2:c.424A>G MANE Select ENSP00000495761.2:p.Thr142Ala
ENST00000311461.7:c.424A>G ENSP00000311835.7:p.Thr142Ala
ENST00000311469.8:c.574A>G ENSP00000310873.4:p.Thr192Ala
ENST00000503391.5:c.424A>G ENSP00000426242.1:p.Thr142Ala
ENST00000503915.5:c.115A>G ENSP00000427146.1:p.Thr39Ala
ENST00000514935.1:n.336A>G
NM_015697.7:c.574A>G NP_056512.5:p.Thr192Ala
XM_011531855.1:c.574A>G XP_011530157.1:p.Thr192Ala
XM_011531856.1:c.574A>G XP_011530158.1:p.Thr192Ala
XM_011531857.1:c.574A>G XP_011530159.1:p.Thr192Ala
XM_011531858.1:c.574A>G XP_011530160.1:p.Thr192Ala
XM_011531859.1:c.574A>G XP_011530161.1:p.Thr192Ala
XM_011531860.1:c.574A>G XP_011530162.1:p.Thr192Ala
XM_011531861.1:c.574A>G XP_011530163.1:p.Thr192Ala
XM_011531862.1:c.574A>G XP_011530164.1:p.Thr192Ala
XM_011531863.1:c.574A>G XP_011530165.1:p.Thr192Ala
XM_011531864.1:c.574A>G XP_011530166.1:p.Thr192Ala
XM_011531865.1:c.574A>G XP_011530167.1:p.Thr192Ala
XM_011531866.1:c.574A>G XP_011530168.1:p.Thr192Ala
XM_011531867.1:c.220A>G XP_011530169.1:p.Thr74Ala
XR_427543.2:n.733A>G
XR_938721.1:n.749A>G
NM_001358921.1:c.424A>G NP_001345850.1:p.Thr142Ala
NM_015697.8:c.574A>G NP_056512.5:p.Thr192Ala
XM_011531855.3:c.424A>G XP_011530157.2:p.Thr142Ala
XM_011531857.3:c.424A>G XP_011530159.2:p.Thr142Ala
XM_011531859.3:c.424A>G XP_011530161.2:p.Thr142Ala
XM_011531860.3:c.424A>G XP_011530162.2:p.Thr142Ala
XM_011531862.3:c.424A>G XP_011530164.2:p.Thr142Ala
XM_011531863.3:c.424A>G XP_011530165.2:p.Thr142Ala
XM_011531866.3:c.424A>G XP_011530168.2:p.Thr142Ala
XM_011531867.3:c.220A>G XP_011530169.1:p.Thr74Ala
XM_017008031.2:c.220A>G XP_016863520.1:p.Thr74Ala
XR_001741203.2:n.455A>G
XR_001741204.2:n.455A>G
XR_427543.4:n.455A>G
XR_938721.3:n.455A>G
NM_001358921.2:c.424A>G MANE Select NP_001345850.1:p.Thr142Ala
NM_015697.9:c.574A>G NP_056512.5:p.Thr192Ala