Canonical Allele Identifier: CA2988504

Gene: COQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83267738T>C , CM000666.2:g.83267738T>C	GRCh38
NC_000004.11:g.84188891T>C , CM000666.1:g.84188891T>C	GRCh37
NC_000004.10:g.84407915T>C	NCBI36
NG_015825.1:g.22177A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001358921.2:c.799A>G MANE Select	NP_001345850.1:p.Thr267Ala
ENST00000647002.2:c.799A>G MANE Select	ENSP00000495761.2:p.Thr267Ala
NM_001358921.1:c.799A>G	NP_001345850.1:p.Thr267Ala
NM_015697.7:c.949A>G	NP_056512.5:p.Thr317Ala
NM_015697.8:c.949A>G	NP_056512.5:p.Thr317Ala
NM_015697.9:c.949A>G	NP_056512.5:p.Thr317Ala
ENST00000311461.7:c.799A>G	ENSP00000311835.7:p.Thr267Ala
ENST00000311469.8:c.949A>G	ENSP00000310873.4:p.Thr317Ala
ENST00000311469.9:c.949A>G	ENSP00000310873.4:p.Thr317Ala
ENST00000503391.5:c.*23A>G	ENSP00000426242.1:n.*23A>G
ENST00000503915.5:c.490A>G	ENSP00000427146.1:p.Thr164Ala
XM_011531855.1:c.949A>G	XP_011530157.1:p.Thr317Ala
XM_011531855.3:c.799A>G	XP_011530157.2:p.Thr267Ala
XM_011531856.1:c.949A>G	XP_011530158.1:p.Thr317Ala
XM_011531857.1:c.949A>G	XP_011530159.1:p.Thr317Ala
XM_011531857.3:c.799A>G	XP_011530159.2:p.Thr267Ala
XM_011531858.1:c.949A>G	XP_011530160.1:p.Thr317Ala
XM_011531859.1:c.949A>G	XP_011530161.1:p.Thr317Ala
XM_011531859.3:c.799A>G	XP_011530161.2:p.Thr267Ala
XM_011531860.1:c.949A>G	XP_011530162.1:p.Thr317Ala
XM_011531860.3:c.799A>G	XP_011530162.2:p.Thr267Ala
XM_011531861.1:c.949A>G	XP_011530163.1:p.Thr317Ala
XM_011531862.1:c.949A>G	XP_011530164.1:p.Thr317Ala
XM_011531862.3:c.799A>G	XP_011530164.2:p.Thr267Ala
XM_011531863.1:c.949A>G	XP_011530165.1:p.Thr317Ala
XM_011531863.3:c.799A>G	XP_011530165.2:p.Thr267Ala
XM_011531864.1:c.949A>G	XP_011530166.1:p.Thr317Ala
XM_011531865.1:c.949A>G	XP_011530167.1:p.Thr317Ala
XM_011531866.1:c.949A>G	XP_011530168.1:p.Thr317Ala
XM_011531866.3:c.799A>G	XP_011530168.2:p.Thr267Ala
XM_011531867.1:c.595A>G	XP_011530169.1:p.Thr199Ala
XM_011531867.3:c.595A>G	XP_011530169.1:p.Thr199Ala
XM_017008031.2:c.595A>G	XP_016863520.1:p.Thr199Ala
XM_017008032.2:c.208A>G	XP_016863521.1:p.Thr70Ala
XR_001741203.2:n.830A>G
XR_001741204.2:n.825A>G
XR_427543.2:n.1108A>G
XR_427543.4:n.830A>G
XR_938721.1:n.1119A>G
XR_938721.3:n.825A>G