Canonical Allele Identifier: CA321937

Gene: COQ2

Linked Data

• ClinVar Variation Id: 214225
• ClinVar RCV Id: RCV000656337
• dbSNP Id: rs752575160
• MyVariant Identifiers: chr4:g.84206052G>T (hg19) ; chr4:g.83284899G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83284899G>T , CM000666.2:g.83284899G>T	GRCh38
NC_000004.11:g.84206052G>T , CM000666.1:g.84206052G>T	GRCh37
NC_000004.10:g.84425076G>T	NCBI36
NG_015825.1:g.5016C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311469.9:c.16C>A	ENSP00000310873.4:p.Gln6Lys
ENST00000311469.8:c.16C>A	ENSP00000310873.4:p.Gln6Lys
NM_015697.7:c.16C>A	NP_056512.5:p.Gln6Lys
XM_011531855.1:c.16C>A	XP_011530157.1:p.Gln6Lys
XM_011531856.1:c.16C>A	XP_011530158.1:p.Gln6Lys
XM_011531857.1:c.16C>A	XP_011530159.1:p.Gln6Lys
XM_011531858.1:c.16C>A	XP_011530160.1:p.Gln6Lys
XM_011531859.1:c.16C>A	XP_011530161.1:p.Gln6Lys
XM_011531860.1:c.16C>A	XP_011530162.1:p.Gln6Lys
XM_011531861.1:c.16C>A	XP_011530163.1:p.Gln6Lys
XM_011531862.1:c.16C>A	XP_011530164.1:p.Gln6Lys
XM_011531863.1:c.16C>A	XP_011530165.1:p.Gln6Lys
XM_011531864.1:c.16C>A	XP_011530166.1:p.Gln6Lys
XM_011531865.1:c.16C>A	XP_011530167.1:p.Gln6Lys
XM_011531866.1:c.16C>A	XP_011530168.1:p.Gln6Lys
XR_427543.2:n.175C>A
XR_938721.1:n.191C>A
NM_015697.8:c.16C>A	NP_056512.5:p.Gln6Lys
NM_015697.9:c.16C>A	NP_056512.5:p.Gln6Lys