Canonical Allele Identifier: CA323572

Gene: COQ2

Linked Data

• ClinVar Variation Id: 214220
• ClinVar RCV Id: RCV000199029 ; RCV001853172 ; RCV002515384 ; RCV003485558
• dbSNP Id: rs368891722
• ExAC: 4:84205940 G / C
• gnomAD v2: 4-84205940-G-C
• gnomAD v3: 4-83284787-G-C
• gnomAD v4: 4-83284787-G-C
• MyVariant Identifiers: chr4:g.84205940G>C (hg19) ; chr4:g.83284787G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83284787G>C , CM000666.2:g.83284787G>C	GRCh38
NC_000004.11:g.84205940G>C , CM000666.1:g.84205940G>C	GRCh37
NC_000004.10:g.84424964G>C	NCBI36
NG_015825.1:g.5128C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311469.9:c.128C>G	ENSP00000310873.4:p.Ala43Gly
ENST00000647002.2:c.-23C>G MANE Select	ENSP00000495761.2:n.-23C>G
ENST00000311469.8:c.128C>G	ENSP00000310873.4:p.Ala43Gly
ENST00000503391.5:c.-23C>G	ENSP00000426242.1:n.-23C>G
NM_015697.7:c.128C>G	NP_056512.5:p.Ala43Gly
XM_011531855.1:c.128C>G	XP_011530157.1:p.Ala43Gly
XM_011531856.1:c.128C>G	XP_011530158.1:p.Ala43Gly
XM_011531857.1:c.128C>G	XP_011530159.1:p.Ala43Gly
XM_011531858.1:c.128C>G	XP_011530160.1:p.Ala43Gly
XM_011531859.1:c.128C>G	XP_011530161.1:p.Ala43Gly
XM_011531860.1:c.128C>G	XP_011530162.1:p.Ala43Gly
XM_011531861.1:c.128C>G	XP_011530163.1:p.Ala43Gly
XM_011531862.1:c.128C>G	XP_011530164.1:p.Ala43Gly
XM_011531863.1:c.128C>G	XP_011530165.1:p.Ala43Gly
XM_011531864.1:c.128C>G	XP_011530166.1:p.Ala43Gly
XM_011531865.1:c.128C>G	XP_011530167.1:p.Ala43Gly
XM_011531866.1:c.128C>G	XP_011530168.1:p.Ala43Gly
XR_427543.2:n.287C>G
XR_938721.1:n.303C>G
NM_001358921.1:c.-23C>G	NP_001345850.1:n.-23C>G
NM_015697.8:c.128C>G	NP_056512.5:p.Ala43Gly
XM_011531855.3:c.-23C>G	XP_011530157.2:n.-23C>G
XM_011531857.3:c.-23C>G	XP_011530159.2:n.-23C>G
XM_011531859.3:c.-23C>G	XP_011530161.2:n.-23C>G
XM_011531860.3:c.-23C>G	XP_011530162.2:n.-23C>G
XM_011531862.3:c.-23C>G	XP_011530164.2:n.-23C>G
XM_011531863.3:c.-23C>G	XP_011530165.2:n.-23C>G
XM_011531866.3:c.-23C>G	XP_011530168.2:n.-23C>G
XR_001741203.2:n.9C>G
XR_001741204.2:n.9C>G
XR_427543.4:n.9C>G
XR_938721.3:n.9C>G
NM_001358921.2:c.-23C>G MANE Select	NP_001345850.1:n.-23C>G
NM_015697.9:c.128C>G	NP_056512.5:p.Ala43Gly