Canonical Allele Identifier: CA2988723

Gene: COQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83284868dup , CM000666.2:g.83284868dup	GRCh38
NC_000004.11:g.84206021dup , CM000666.1:g.84206021dup	GRCh37
NC_000004.10:g.84425045dup	NCBI36
NG_015825.1:g.5048dup

Transcript Alleles

HGVS	Amino-acid Change
NM_015697.7:c.48dup	NP_056512.5:p.Ala17ArgfsTer?
NM_015697.8:c.48dup	NP_056512.5:p.Ala17ArgfsTer?
NM_015697.9:c.48dup	NP_056512.5:p.Ala17ArgfsTer?
ENST00000311469.8:c.48dup	ENSP00000310873.4:p.Ala17ArgfsTer?
ENST00000311469.9:c.48dup	ENSP00000310873.4:p.Ala17ArgfsTer?
XM_011531855.1:c.48dup	XP_011530157.1:p.Ala17ArgfsTer?
XM_011531856.1:c.48dup	XP_011530158.1:p.Ala17ArgfsTer?
XM_011531857.1:c.48dup	XP_011530159.1:p.Ala17ArgfsTer?
XM_011531858.1:c.48dup	XP_011530160.1:p.Ala17ArgfsTer?
XM_011531859.1:c.48dup	XP_011530161.1:p.Ala17ArgfsTer?
XM_011531860.1:c.48dup	XP_011530162.1:p.Ala17ArgfsTer?
XM_011531861.1:c.48dup	XP_011530163.1:p.Ala17ArgfsTer?
XM_011531862.1:c.48dup	XP_011530164.1:p.Ala17ArgfsTer?
XM_011531863.1:c.48dup	XP_011530165.1:p.Ala17ArgfsTer?
XM_011531864.1:c.48dup	XP_011530166.1:p.Ala17ArgfsTer?
XM_011531865.1:c.48dup	XP_011530167.1:p.Ala17ArgfsTer?
XM_011531866.1:c.48dup	XP_011530168.1:p.Ala17ArgfsTer?
XR_427543.2:n.207dup
XR_938721.1:n.223dup