Canonical Allele Identifier: CA357227888

Gene: COQ2

Linked Data

• dbSNP Id: rs1336920180
• gnomAD v2: 4-84185423-G-C
• gnomAD v4: 4-83264270-G-C
• MyVariant Identifiers: chr4:g.84185423G>C (hg19) ; chr4:g.83264270G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83264270G>C , CM000666.2:g.83264270G>C	GRCh38
NC_000004.11:g.84185423G>C , CM000666.1:g.84185423G>C	GRCh37
NC_000004.10:g.84404447G>C	NCBI36
NG_015825.1:g.25645C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000311469.9:c.1195C>G	ENSP00000310873.4:p.Leu399Val
ENST00000647002.2:c.1045C>G MANE Select	ENSP00000495761.2:p.Leu349Val
ENST00000311469.8:c.1195C>G	ENSP00000310873.4:p.Leu399Val
ENST00000503391.5:c.*176-1615C>G	ENSP00000426242.1:n.*176-1615C>G
ENST00000503915.5:c.855C>G	ENSP00000427146.1:n.855C>G
NM_015697.7:c.1195C>G	NP_056512.5:p.Leu399Val
XM_011531855.1:c.1102-1615C>G	XP_011530157.1:n.1102-1615C>G
XM_011531856.1:c.1102-1615C>G	XP_011530158.1:n.1102-1615C>G
XM_011531857.1:c.1102-1615C>G	XP_011530159.1:n.1102-1615C>G
XM_011531858.1:c.1102-1615C>G	XP_011530160.1:n.1102-1615C>G
XM_011531859.1:c.1102-1615C>G	XP_011530161.1:n.1102-1615C>G
XM_011531860.1:c.1102-1615C>G	XP_011530162.1:n.1102-1615C>G
XM_011531861.1:c.1102-1615C>G	XP_011530163.1:n.1102-1615C>G
XM_011531862.1:c.1102-1615C>G	XP_011530164.1:n.1102-1615C>G
XM_011531863.1:c.1102-1615C>G	XP_011530165.1:n.1102-1615C>G
XM_011531864.1:c.1102-1615C>G	XP_011530166.1:n.1102-1615C>G
XM_011531865.1:c.1102-1615C>G	XP_011530167.1:n.1102-1615C>G
XM_011531866.1:c.1102-1615C>G	XP_011530168.1:n.1102-1615C>G
XM_011531867.1:c.748-1615C>G	XP_011530169.1:n.748-1615C>G
XR_427543.2:n.1473C>G
NM_001358921.1:c.1045C>G	NP_001345850.1:p.Leu349Val
NM_015697.8:c.1195C>G	NP_056512.5:p.Leu399Val
XM_011531855.3:c.952-1615C>G	XP_011530157.2:n.952-1615C>G
XM_011531857.3:c.952-1615C>G	XP_011530159.2:n.952-1615C>G
XM_011531859.3:c.952-1615C>G	XP_011530161.2:n.952-1615C>G
XM_011531860.3:c.952-1615C>G	XP_011530162.2:n.952-1615C>G
XM_011531862.3:c.952-1615C>G	XP_011530164.2:n.952-1615C>G
XM_011531863.3:c.952-1615C>G	XP_011530165.2:n.952-1615C>G
XM_011531866.3:c.952-1615C>G	XP_011530168.2:n.952-1615C>G
XM_011531867.3:c.748-1615C>G	XP_011530169.1:n.748-1615C>G
XM_017008031.2:c.841C>G	XP_016863520.1:p.Leu281Val
XM_017008032.2:c.361-1615C>G	XP_016863521.1:n.361-1615C>G
XR_001741203.2:n.983-1615C>G
XR_001741204.2:n.1071C>G
XR_427543.4:n.1195C>G
XR_938721.3:n.1190C>G
NM_001358921.2:c.1045C>G MANE Select	NP_001345850.1:p.Leu349Val
NM_015697.9:c.1195C>G	NP_056512.5:p.Leu399Val