Canonical Allele Identifier: CA357230587

Gene: COQ2

Linked Data

• dbSNP Id: rs1218485319
• gnomAD v4: 4-83279034-G-A
• COSMIC: COSM268937
• MyVariant Identifiers: chr4:g.84200187G>A (hg19) ; chr4:g.83279034G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83279034G>A , CM000666.2:g.83279034G>A	GRCh38
NC_000004.11:g.84200187G>A , CM000666.1:g.84200187G>A	GRCh37
NC_000004.10:g.84419211G>A	NCBI36
NG_015825.1:g.10881C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311469.9:c.484C>T	ENSP00000310873.4:p.Leu162Phe
ENST00000647002.2:c.334C>T MANE Select	ENSP00000495761.2:p.Leu112Phe
ENST00000311461.7:c.334C>T	ENSP00000311835.7:p.Leu112Phe
ENST00000311469.8:c.484C>T	ENSP00000310873.4:p.Leu162Phe
ENST00000503391.5:c.334C>T	ENSP00000426242.1:p.Leu112Phe
ENST00000503915.5:c.25C>T	ENSP00000427146.1:p.Leu9Phe
ENST00000514935.1:n.246C>T
NM_015697.7:c.484C>T	NP_056512.5:p.Leu162Phe
XM_011531855.1:c.484C>T	XP_011530157.1:p.Leu162Phe
XM_011531856.1:c.484C>T	XP_011530158.1:p.Leu162Phe
XM_011531857.1:c.484C>T	XP_011530159.1:p.Leu162Phe
XM_011531858.1:c.484C>T	XP_011530160.1:p.Leu162Phe
XM_011531859.1:c.484C>T	XP_011530161.1:p.Leu162Phe
XM_011531860.1:c.484C>T	XP_011530162.1:p.Leu162Phe
XM_011531861.1:c.484C>T	XP_011530163.1:p.Leu162Phe
XM_011531862.1:c.484C>T	XP_011530164.1:p.Leu162Phe
XM_011531863.1:c.484C>T	XP_011530165.1:p.Leu162Phe
XM_011531864.1:c.484C>T	XP_011530166.1:p.Leu162Phe
XM_011531865.1:c.484C>T	XP_011530167.1:p.Leu162Phe
XM_011531866.1:c.484C>T	XP_011530168.1:p.Leu162Phe
XM_011531867.1:c.130C>T	XP_011530169.1:p.Leu44Phe
XR_427543.2:n.643C>T
XR_938721.1:n.659C>T
NM_001358921.1:c.334C>T	NP_001345850.1:p.Leu112Phe
NM_015697.8:c.484C>T	NP_056512.5:p.Leu162Phe
XM_011531855.3:c.334C>T	XP_011530157.2:p.Leu112Phe
XM_011531857.3:c.334C>T	XP_011530159.2:p.Leu112Phe
XM_011531859.3:c.334C>T	XP_011530161.2:p.Leu112Phe
XM_011531860.3:c.334C>T	XP_011530162.2:p.Leu112Phe
XM_011531862.3:c.334C>T	XP_011530164.2:p.Leu112Phe
XM_011531863.3:c.334C>T	XP_011530165.2:p.Leu112Phe
XM_011531866.3:c.334C>T	XP_011530168.2:p.Leu112Phe
XM_011531867.3:c.130C>T	XP_011530169.1:p.Leu44Phe
XM_017008031.2:c.130C>T	XP_016863520.1:p.Leu44Phe
XR_001741203.2:n.365C>T
XR_001741204.2:n.365C>T
XR_427543.4:n.365C>T
XR_938721.3:n.365C>T
NM_001358921.2:c.334C>T MANE Select	NP_001345850.1:p.Leu112Phe
NM_015697.9:c.484C>T	NP_056512.5:p.Leu162Phe