Canonical Allele Identifier: CA100655015

Gene: COQ2

Linked Data

• ClinVar Variation Id: 2096746
• ClinVar RCV Id: RCV003016344
• dbSNP Id: rs1053656645
• gnomAD v2: 4-84200173-G-A
• gnomAD v3: 4-83279020-G-A
• gnomAD v4: 4-83279020-G-A
• MyVariant Identifiers: chr4:g.84200173G>A (hg19) ; chr4:g.83279020G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83279020G>A , CM000666.2:g.83279020G>A	GRCh38
NC_000004.11:g.84200173G>A , CM000666.1:g.84200173G>A	GRCh37
NC_000004.10:g.84419197G>A	NCBI36
NG_015825.1:g.10895C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311469.9:c.498C>T	ENSP00000310873.4:p.Gly166=
ENST00000647002.2:c.348C>T MANE Select	ENSP00000495761.2:p.Gly116=
ENST00000311461.7:c.348C>T	ENSP00000311835.7:p.Gly116=
ENST00000311469.8:c.498C>T	ENSP00000310873.4:p.Gly166=
ENST00000503391.5:c.348C>T	ENSP00000426242.1:p.Gly116=
ENST00000503915.5:c.39C>T	ENSP00000427146.1:p.Gly13=
ENST00000514935.1:n.260C>T
NM_015697.7:c.498C>T	NP_056512.5:p.Gly166=
XM_011531855.1:c.498C>T	XP_011530157.1:p.Gly166=
XM_011531856.1:c.498C>T	XP_011530158.1:p.Gly166=
XM_011531857.1:c.498C>T	XP_011530159.1:p.Gly166=
XM_011531858.1:c.498C>T	XP_011530160.1:p.Gly166=
XM_011531859.1:c.498C>T	XP_011530161.1:p.Gly166=
XM_011531860.1:c.498C>T	XP_011530162.1:p.Gly166=
XM_011531861.1:c.498C>T	XP_011530163.1:p.Gly166=
XM_011531862.1:c.498C>T	XP_011530164.1:p.Gly166=
XM_011531863.1:c.498C>T	XP_011530165.1:p.Gly166=
XM_011531864.1:c.498C>T	XP_011530166.1:p.Gly166=
XM_011531865.1:c.498C>T	XP_011530167.1:p.Gly166=
XM_011531866.1:c.498C>T	XP_011530168.1:p.Gly166=
XM_011531867.1:c.144C>T	XP_011530169.1:p.Gly48=
XR_427543.2:n.657C>T
XR_938721.1:n.673C>T
NM_001358921.1:c.348C>T	NP_001345850.1:p.Gly116=
NM_015697.8:c.498C>T	NP_056512.5:p.Gly166=
XM_011531855.3:c.348C>T	XP_011530157.2:p.Gly116=
XM_011531857.3:c.348C>T	XP_011530159.2:p.Gly116=
XM_011531859.3:c.348C>T	XP_011530161.2:p.Gly116=
XM_011531860.3:c.348C>T	XP_011530162.2:p.Gly116=
XM_011531862.3:c.348C>T	XP_011530164.2:p.Gly116=
XM_011531863.3:c.348C>T	XP_011530165.2:p.Gly116=
XM_011531866.3:c.348C>T	XP_011530168.2:p.Gly116=
XM_011531867.3:c.144C>T	XP_011530169.1:p.Gly48=
XM_017008031.2:c.144C>T	XP_016863520.1:p.Gly48=
XR_001741203.2:n.379C>T
XR_001741204.2:n.379C>T
XR_427543.4:n.379C>T
XR_938721.3:n.379C>T
NM_001358921.2:c.348C>T MANE Select	NP_001345850.1:p.Gly116=
NM_015697.9:c.498C>T	NP_056512.5:p.Gly166=