Canonical Allele Identifier: CA2834095139

Gene: COQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83273489A>T , CM000666.2:g.83273489A>T	GRCh38
NC_000004.11:g.84194642A>T , CM000666.1:g.84194642A>T	GRCh37
NC_000004.10:g.84413666A>T	NCBI36
NG_015825.1:g.16426T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311469.9:c.692+7T>A	ENSP00000310873.4:n.692+7T>A
ENST00000647002.2:c.542+7T>A MANE Select	ENSP00000495761.2:n.542+7T>A
ENST00000311461.7:c.542+7T>A	ENSP00000311835.7:n.542+7T>A
ENST00000311469.8:c.692+7T>A	ENSP00000310873.4:n.692+7T>A
ENST00000503391.5:c.542+7T>A	ENSP00000426242.1:n.542+7T>A
ENST00000503915.5:c.233+7T>A	ENSP00000427146.1:n.233+7T>A
NM_015697.7:c.692+7T>A	NP_056512.5:n.692+7T>A
XM_011531855.1:c.692+7T>A	XP_011530157.1:n.692+7T>A
XM_011531856.1:c.692+7T>A	XP_011530158.1:n.692+7T>A
XM_011531857.1:c.692+7T>A	XP_011530159.1:n.692+7T>A
XM_011531858.1:c.692+7T>A	XP_011530160.1:n.692+7T>A
XM_011531859.1:c.692+7T>A	XP_011530161.1:n.692+7T>A
XM_011531860.1:c.692+7T>A	XP_011530162.1:n.692+7T>A
XM_011531861.1:c.692+7T>A	XP_011530163.1:n.692+7T>A
XM_011531862.1:c.692+7T>A	XP_011530164.1:n.692+7T>A
XM_011531863.1:c.692+7T>A	XP_011530165.1:n.692+7T>A
XM_011531864.1:c.692+7T>A	XP_011530166.1:n.692+7T>A
XM_011531865.1:c.692+7T>A	XP_011530167.1:n.692+7T>A
XM_011531866.1:c.692+7T>A	XP_011530168.1:n.692+7T>A
XM_011531867.1:c.338+7T>A	XP_011530169.1:n.338+7T>A
XR_427543.2:n.851+7T>A
XR_938721.1:n.867+7T>A
NM_001358921.1:c.542+7T>A	NP_001345850.1:n.542+7T>A
NM_015697.8:c.692+7T>A	NP_056512.5:n.692+7T>A
XM_011531855.3:c.542+7T>A	XP_011530157.2:n.542+7T>A
XM_011531857.3:c.542+7T>A	XP_011530159.2:n.542+7T>A
XM_011531859.3:c.542+7T>A	XP_011530161.2:n.542+7T>A
XM_011531860.3:c.542+7T>A	XP_011530162.2:n.542+7T>A
XM_011531862.3:c.542+7T>A	XP_011530164.2:n.542+7T>A
XM_011531863.3:c.542+7T>A	XP_011530165.2:n.542+7T>A
XM_011531866.3:c.542+7T>A	XP_011530168.2:n.542+7T>A
XM_011531867.3:c.338+7T>A	XP_011530169.1:n.338+7T>A
XM_017008031.2:c.338+7T>A	XP_016863520.1:n.338+7T>A
XM_017008032.2:c.-45+7T>A	XP_016863521.1:n.-45+7T>A
XR_001741203.2:n.573+7T>A
XR_001741204.2:n.573+7T>A
XR_427543.4:n.573+7T>A
XR_938721.3:n.573+7T>A
NM_001358921.2:c.542+7T>A MANE Select	NP_001345850.1:n.542+7T>A
NM_015697.9:c.692+7T>A	NP_056512.5:n.692+7T>A