Canonical Allele Identifier: CA100651793

Gene: COQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83267369G>A , CM000666.2:g.83267369G>A	GRCh38
NC_000004.11:g.84188522G>A , CM000666.1:g.84188522G>A	GRCh37
NC_000004.10:g.84407546G>A	NCBI36
NG_015825.1:g.22546C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311469.9:c.1101+217C>T	ENSP00000310873.4:n.1101+217C>T
ENST00000647002.2:c.951+217C>T MANE Select	ENSP00000495761.2:n.951+217C>T
ENST00000311461.7:c.952-161C>T	ENSP00000311835.7:n.952-161C>T
ENST00000311469.8:c.1101+217C>T	ENSP00000310873.4:n.1101+217C>T
ENST00000503391.5:c.*175+217C>T	ENSP00000426242.1:n.*175+217C>T
ENST00000503915.5:c.643-161C>T	ENSP00000427146.1:n.643-161C>T
NM_015697.7:c.1101+217C>T	NP_056512.5:n.1101+217C>T
XM_011531855.1:c.1101+217C>T	XP_011530157.1:n.1101+217C>T
XM_011531856.1:c.1101+217C>T	XP_011530158.1:n.1101+217C>T
XM_011531857.1:c.1101+217C>T	XP_011530159.1:n.1101+217C>T
XM_011531858.1:c.1101+217C>T	XP_011530160.1:n.1101+217C>T
XM_011531859.1:c.1101+217C>T	XP_011530161.1:n.1101+217C>T
XM_011531860.1:c.1101+217C>T	XP_011530162.1:n.1101+217C>T
XM_011531861.1:c.1101+217C>T	XP_011530163.1:n.1101+217C>T
XM_011531862.1:c.1101+217C>T	XP_011530164.1:n.1101+217C>T
XM_011531863.1:c.1101+217C>T	XP_011530165.1:n.1101+217C>T
XM_011531864.1:c.1101+217C>T	XP_011530166.1:n.1101+217C>T
XM_011531865.1:c.1101+217C>T	XP_011530167.1:n.1101+217C>T
XM_011531866.1:c.1101+217C>T	XP_011530168.1:n.1101+217C>T
XM_011531867.1:c.747+217C>T	XP_011530169.1:n.747+217C>T
XR_427543.2:n.1261-161C>T
XR_938721.1:n.1272-161C>T
NM_001358921.1:c.951+217C>T	NP_001345850.1:n.951+217C>T
NM_015697.8:c.1101+217C>T	NP_056512.5:n.1101+217C>T
XM_011531855.3:c.951+217C>T	XP_011530157.2:n.951+217C>T
XM_011531857.3:c.951+217C>T	XP_011530159.2:n.951+217C>T
XM_011531859.3:c.951+217C>T	XP_011530161.2:n.951+217C>T
XM_011531860.3:c.951+217C>T	XP_011530162.2:n.951+217C>T
XM_011531862.3:c.951+217C>T	XP_011530164.2:n.951+217C>T
XM_011531863.3:c.951+217C>T	XP_011530165.2:n.951+217C>T
XM_011531866.3:c.951+217C>T	XP_011530168.2:n.951+217C>T
XM_011531867.3:c.747+217C>T	XP_011530169.1:n.747+217C>T
XM_017008031.2:c.747+217C>T	XP_016863520.1:n.747+217C>T
XM_017008032.2:c.360+217C>T	XP_016863521.1:n.360+217C>T
XR_001741203.2:n.982+217C>T
XR_001741204.2:n.977+217C>T
XR_427543.4:n.983-161C>T
XR_938721.3:n.978-161C>T
NM_001358921.2:c.951+217C>T MANE Select	NP_001345850.1:n.951+217C>T
NM_015697.9:c.1101+217C>T	NP_056512.5:n.1101+217C>T