Canonical Allele Identifier: CA2988448

Gene: COQ2

Linked Data

• ClinVar Variation Id: 384976
• ClinVar RCV Id: RCV000905365 ; RCV002506045 ; RCV003902555
• dbSNP Id: rs6834269
• ExAC: 4:84185424 G / A
• gnomAD v2: 4-84185424-G-A
• gnomAD v3: 4-83264271-G-A
• gnomAD v4: 4-83264271-G-A
• COSMIC: COSM3606588
• MyVariant Identifiers: chr4:g.84185424G>A (hg19) ; chr4:g.83264271G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83264271G>A , CM000666.2:g.83264271G>A	GRCh38
NC_000004.11:g.84185424G>A , CM000666.1:g.84185424G>A	GRCh37
NC_000004.10:g.84404448G>A	NCBI36
NG_015825.1:g.25644C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000311469.9:c.1194C>T	ENSP00000310873.4:p.Val398=
ENST00000647002.2:c.1044C>T MANE Select	ENSP00000495761.2:p.Val348=
ENST00000311469.8:c.1194C>T	ENSP00000310873.4:p.Val398=
ENST00000503391.5:c.*176-1616C>T	ENSP00000426242.1:n.*176-1616C>T
ENST00000503915.5:c.854C>T	ENSP00000427146.1:n.854C>T
NM_015697.7:c.1194C>T	NP_056512.5:p.Val398=
XM_011531855.1:c.1102-1616C>T	XP_011530157.1:n.1102-1616C>T
XM_011531856.1:c.1102-1616C>T	XP_011530158.1:n.1102-1616C>T
XM_011531857.1:c.1102-1616C>T	XP_011530159.1:n.1102-1616C>T
XM_011531858.1:c.1102-1616C>T	XP_011530160.1:n.1102-1616C>T
XM_011531859.1:c.1102-1616C>T	XP_011530161.1:n.1102-1616C>T
XM_011531860.1:c.1102-1616C>T	XP_011530162.1:n.1102-1616C>T
XM_011531861.1:c.1102-1616C>T	XP_011530163.1:n.1102-1616C>T
XM_011531862.1:c.1102-1616C>T	XP_011530164.1:n.1102-1616C>T
XM_011531863.1:c.1102-1616C>T	XP_011530165.1:n.1102-1616C>T
XM_011531864.1:c.1102-1616C>T	XP_011530166.1:n.1102-1616C>T
XM_011531865.1:c.1102-1616C>T	XP_011530167.1:n.1102-1616C>T
XM_011531866.1:c.1102-1616C>T	XP_011530168.1:n.1102-1616C>T
XM_011531867.1:c.748-1616C>T	XP_011530169.1:n.748-1616C>T
XR_427543.2:n.1472C>T
NM_001358921.1:c.1044C>T	NP_001345850.1:p.Val348=
NM_015697.8:c.1194C>T	NP_056512.5:p.Val398=
XM_011531855.3:c.952-1616C>T	XP_011530157.2:n.952-1616C>T
XM_011531857.3:c.952-1616C>T	XP_011530159.2:n.952-1616C>T
XM_011531859.3:c.952-1616C>T	XP_011530161.2:n.952-1616C>T
XM_011531860.3:c.952-1616C>T	XP_011530162.2:n.952-1616C>T
XM_011531862.3:c.952-1616C>T	XP_011530164.2:n.952-1616C>T
XM_011531863.3:c.952-1616C>T	XP_011530165.2:n.952-1616C>T
XM_011531866.3:c.952-1616C>T	XP_011530168.2:n.952-1616C>T
XM_011531867.3:c.748-1616C>T	XP_011530169.1:n.748-1616C>T
XM_017008031.2:c.840C>T	XP_016863520.1:p.Val280=
XM_017008032.2:c.361-1616C>T	XP_016863521.1:n.361-1616C>T
XR_001741203.2:n.983-1616C>T
XR_001741204.2:n.1070C>T
XR_427543.4:n.1194C>T
XR_938721.3:n.1189C>T
NM_001358921.2:c.1044C>T MANE Select	NP_001345850.1:p.Val348=
NM_015697.9:c.1194C>T	NP_056512.5:p.Val398=