Canonical Allele Identifier: CA2988634

Gene: COQ2

Linked Data

• ClinVar Variation Id: 2754481
• ClinVar RCV Id: RCV003569343
• dbSNP Id: rs770656317
• ExAC: 4:84200250 A / G
• gnomAD v2: 4-84200250-A-G
• gnomAD v3: 4-83279097-A-G
• gnomAD v4: 4-83279097-A-G
• MyVariant Identifiers: chr4:g.84200250A>G (hg19) ; chr4:g.83279097A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83279097A>G , CM000666.2:g.83279097A>G	GRCh38
NC_000004.11:g.84200250A>G , CM000666.1:g.84200250A>G	GRCh37
NC_000004.10:g.84419274A>G	NCBI36
NG_015825.1:g.10818T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000311469.9:c.421T>C	ENSP00000310873.4:p.Leu141=
ENST00000647002.2:c.271T>C MANE Select	ENSP00000495761.2:p.Leu91=
ENST00000311461.7:c.271T>C	ENSP00000311835.7:p.Leu91=
ENST00000311469.8:c.421T>C	ENSP00000310873.4:p.Leu141=
ENST00000503391.5:c.271T>C	ENSP00000426242.1:p.Leu91=
ENST00000514935.1:n.183T>C
NM_015697.7:c.421T>C	NP_056512.5:p.Leu141=
XM_011531855.1:c.421T>C	XP_011530157.1:p.Leu141=
XM_011531856.1:c.421T>C	XP_011530158.1:p.Leu141=
XM_011531857.1:c.421T>C	XP_011530159.1:p.Leu141=
XM_011531858.1:c.421T>C	XP_011530160.1:p.Leu141=
XM_011531859.1:c.421T>C	XP_011530161.1:p.Leu141=
XM_011531860.1:c.421T>C	XP_011530162.1:p.Leu141=
XM_011531861.1:c.421T>C	XP_011530163.1:p.Leu141=
XM_011531862.1:c.421T>C	XP_011530164.1:p.Leu141=
XM_011531863.1:c.421T>C	XP_011530165.1:p.Leu141=
XM_011531864.1:c.421T>C	XP_011530166.1:p.Leu141=
XM_011531865.1:c.421T>C	XP_011530167.1:p.Leu141=
XM_011531866.1:c.421T>C	XP_011530168.1:p.Leu141=
XM_011531867.1:c.67T>C	XP_011530169.1:p.Leu23=
XR_427543.2:n.580T>C
XR_938721.1:n.596T>C
NM_001358921.1:c.271T>C	NP_001345850.1:p.Leu91=
NM_015697.8:c.421T>C	NP_056512.5:p.Leu141=
XM_011531855.3:c.271T>C	XP_011530157.2:p.Leu91=
XM_011531857.3:c.271T>C	XP_011530159.2:p.Leu91=
XM_011531859.3:c.271T>C	XP_011530161.2:p.Leu91=
XM_011531860.3:c.271T>C	XP_011530162.2:p.Leu91=
XM_011531862.3:c.271T>C	XP_011530164.2:p.Leu91=
XM_011531863.3:c.271T>C	XP_011530165.2:p.Leu91=
XM_011531866.3:c.271T>C	XP_011530168.2:p.Leu91=
XM_011531867.3:c.67T>C	XP_011530169.1:p.Leu23=
XM_017008031.2:c.67T>C	XP_016863520.1:p.Leu23=
XR_001741203.2:n.302T>C
XR_001741204.2:n.302T>C
XR_427543.4:n.302T>C
XR_938721.3:n.302T>C
NM_001358921.2:c.271T>C MANE Select	NP_001345850.1:p.Leu91=
NM_015697.9:c.421T>C	NP_056512.5:p.Leu141=