Canonical Allele Identifier: CA357227902

Gene: COQ2

Linked Data

• dbSNP Id: rs1372077739
• gnomAD v3: 4-83264278-C-T
• gnomAD v4: 4-83264278-C-T
• MyVariant Identifiers: chr4:g.84185431C>T (hg19) ; chr4:g.83264278C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83264278C>T , CM000666.2:g.83264278C>T	GRCh38
NC_000004.11:g.84185431C>T , CM000666.1:g.84185431C>T	GRCh37
NC_000004.10:g.84404455C>T	NCBI36
NG_015825.1:g.25637G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000311469.9:c.1187G>A	ENSP00000310873.4:p.Gly396Glu
ENST00000647002.2:c.1037G>A MANE Select	ENSP00000495761.2:p.Gly346Glu
ENST00000311469.8:c.1187G>A	ENSP00000310873.4:p.Gly396Glu
ENST00000503391.5:c.*176-1623G>A	ENSP00000426242.1:n.*176-1623G>A
ENST00000503915.5:c.847G>A	ENSP00000427146.1:n.847G>A
NM_015697.7:c.1187G>A	NP_056512.5:p.Gly396Glu
XM_011531855.1:c.1102-1623G>A	XP_011530157.1:n.1102-1623G>A
XM_011531856.1:c.1102-1623G>A	XP_011530158.1:n.1102-1623G>A
XM_011531857.1:c.1102-1623G>A	XP_011530159.1:n.1102-1623G>A
XM_011531858.1:c.1102-1623G>A	XP_011530160.1:n.1102-1623G>A
XM_011531859.1:c.1102-1623G>A	XP_011530161.1:n.1102-1623G>A
XM_011531860.1:c.1102-1623G>A	XP_011530162.1:n.1102-1623G>A
XM_011531861.1:c.1102-1623G>A	XP_011530163.1:n.1102-1623G>A
XM_011531862.1:c.1102-1623G>A	XP_011530164.1:n.1102-1623G>A
XM_011531863.1:c.1102-1623G>A	XP_011530165.1:n.1102-1623G>A
XM_011531864.1:c.1102-1623G>A	XP_011530166.1:n.1102-1623G>A
XM_011531865.1:c.1102-1623G>A	XP_011530167.1:n.1102-1623G>A
XM_011531866.1:c.1102-1623G>A	XP_011530168.1:n.1102-1623G>A
XM_011531867.1:c.748-1623G>A	XP_011530169.1:n.748-1623G>A
XR_427543.2:n.1465G>A
NM_001358921.1:c.1037G>A	NP_001345850.1:p.Gly346Glu
NM_015697.8:c.1187G>A	NP_056512.5:p.Gly396Glu
XM_011531855.3:c.952-1623G>A	XP_011530157.2:n.952-1623G>A
XM_011531857.3:c.952-1623G>A	XP_011530159.2:n.952-1623G>A
XM_011531859.3:c.952-1623G>A	XP_011530161.2:n.952-1623G>A
XM_011531860.3:c.952-1623G>A	XP_011530162.2:n.952-1623G>A
XM_011531862.3:c.952-1623G>A	XP_011530164.2:n.952-1623G>A
XM_011531863.3:c.952-1623G>A	XP_011530165.2:n.952-1623G>A
XM_011531866.3:c.952-1623G>A	XP_011530168.2:n.952-1623G>A
XM_011531867.3:c.748-1623G>A	XP_011530169.1:n.748-1623G>A
XM_017008031.2:c.833G>A	XP_016863520.1:p.Gly278Glu
XM_017008032.2:c.361-1623G>A	XP_016863521.1:n.361-1623G>A
XR_001741203.2:n.983-1623G>A
XR_001741204.2:n.1063G>A
XR_427543.4:n.1187G>A
XR_938721.3:n.1182G>A
NM_001358921.2:c.1037G>A MANE Select	NP_001345850.1:p.Gly346Glu
NM_015697.9:c.1187G>A	NP_056512.5:p.Gly396Glu