Canonical Allele Identifier: CA2988615

Gene: COQ2

Linked Data

• dbSNP Id: rs767419494
• ExAC: 4:84200061 T / G
• gnomAD v2: 4-84200061-T-G
• gnomAD v4: 4-83278908-T-G
• MyVariant Identifiers: chr4:g.84200061T>G (hg19) ; chr4:g.83278908T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83278908T>G , CM000666.2:g.83278908T>G	GRCh38
NC_000004.11:g.84200061T>G , CM000666.1:g.84200061T>G	GRCh37
NC_000004.10:g.84419085T>G	NCBI36
NG_015825.1:g.11007A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000311469.9:c.570+40A>C	ENSP00000310873.4:n.570+40A>C
ENST00000647002.2:c.420+40A>C MANE Select	ENSP00000495761.2:n.420+40A>C
ENST00000311461.7:c.420+40A>C	ENSP00000311835.7:n.420+40A>C
ENST00000311469.8:c.570+40A>C	ENSP00000310873.4:n.570+40A>C
ENST00000503391.5:c.420+40A>C	ENSP00000426242.1:n.420+40A>C
ENST00000503915.5:c.111+40A>C	ENSP00000427146.1:n.111+40A>C
ENST00000514935.1:n.332+40A>C
NM_015697.7:c.570+40A>C	NP_056512.5:n.570+40A>C
XM_011531855.1:c.570+40A>C	XP_011530157.1:n.570+40A>C
XM_011531856.1:c.570+40A>C	XP_011530158.1:n.570+40A>C
XM_011531857.1:c.570+40A>C	XP_011530159.1:n.570+40A>C
XM_011531858.1:c.570+40A>C	XP_011530160.1:n.570+40A>C
XM_011531859.1:c.570+40A>C	XP_011530161.1:n.570+40A>C
XM_011531860.1:c.570+40A>C	XP_011530162.1:n.570+40A>C
XM_011531861.1:c.570+40A>C	XP_011530163.1:n.570+40A>C
XM_011531862.1:c.570+40A>C	XP_011530164.1:n.570+40A>C
XM_011531863.1:c.570+40A>C	XP_011530165.1:n.570+40A>C
XM_011531864.1:c.570+40A>C	XP_011530166.1:n.570+40A>C
XM_011531865.1:c.570+40A>C	XP_011530167.1:n.570+40A>C
XM_011531866.1:c.570+40A>C	XP_011530168.1:n.570+40A>C
XM_011531867.1:c.216+40A>C	XP_011530169.1:n.216+40A>C
XR_427543.2:n.729+40A>C
XR_938721.1:n.745+40A>C
NM_001358921.1:c.420+40A>C	NP_001345850.1:n.420+40A>C
NM_015697.8:c.570+40A>C	NP_056512.5:n.570+40A>C
XM_011531855.3:c.420+40A>C	XP_011530157.2:n.420+40A>C
XM_011531857.3:c.420+40A>C	XP_011530159.2:n.420+40A>C
XM_011531859.3:c.420+40A>C	XP_011530161.2:n.420+40A>C
XM_011531860.3:c.420+40A>C	XP_011530162.2:n.420+40A>C
XM_011531862.3:c.420+40A>C	XP_011530164.2:n.420+40A>C
XM_011531863.3:c.420+40A>C	XP_011530165.2:n.420+40A>C
XM_011531866.3:c.420+40A>C	XP_011530168.2:n.420+40A>C
XM_011531867.3:c.216+40A>C	XP_011530169.1:n.216+40A>C
XM_017008031.2:c.216+40A>C	XP_016863520.1:n.216+40A>C
XR_001741203.2:n.451+40A>C
XR_001741204.2:n.451+40A>C
XR_427543.4:n.451+40A>C
XR_938721.3:n.451+40A>C
NM_001358921.2:c.420+40A>C MANE Select	NP_001345850.1:n.420+40A>C
NM_015697.9:c.570+40A>C	NP_056512.5:n.570+40A>C