Canonical Allele Identifier: CA1472713048

Gene: COQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83279013_83279018delinsCTCCAG , CM000666.2:g.83279013_83279018delinsCTCCAG	GRCh38
NC_000004.11:g.84200166_84200171delinsCTCCAG , CM000666.1:g.84200166_84200171delinsCTCCAG	GRCh37
NC_000004.10:g.84419190_84419195delinsCTCCAG	NCBI36
NG_015825.1:g.10897_10902delinsCTGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311469.9:c.500_505delinsCTGGAG	ENSP00000310873.4:p.Thr167=
ENST00000647002.2:c.350_355delinsCTGGAG MANE Select	ENSP00000495761.2:p.Thr117=
ENST00000311461.7:c.350_355delinsCTGGAG	ENSP00000311835.7:p.Thr117=
ENST00000311469.8:c.500_505delinsCTGGAG	ENSP00000310873.4:p.Thr167=
ENST00000503391.5:c.350_355delinsCTGGAG	ENSP00000426242.1:p.Thr117=
ENST00000503915.5:c.41_46delinsCTGGAG	ENSP00000427146.1:p.Thr14=
ENST00000514935.1:n.262_267delinsCTGGAG
NM_015697.7:c.500_505delinsCTGGAG	NP_056512.5:p.Thr167=
XM_011531855.1:c.500_505delinsCTGGAG	XP_011530157.1:p.Thr167=
XM_011531856.1:c.500_505delinsCTGGAG	XP_011530158.1:p.Thr167=
XM_011531857.1:c.500_505delinsCTGGAG	XP_011530159.1:p.Thr167=
XM_011531858.1:c.500_505delinsCTGGAG	XP_011530160.1:p.Thr167=
XM_011531859.1:c.500_505delinsCTGGAG	XP_011530161.1:p.Thr167=
XM_011531860.1:c.500_505delinsCTGGAG	XP_011530162.1:p.Thr167=
XM_011531861.1:c.500_505delinsCTGGAG	XP_011530163.1:p.Thr167=
XM_011531862.1:c.500_505delinsCTGGAG	XP_011530164.1:p.Thr167=
XM_011531863.1:c.500_505delinsCTGGAG	XP_011530165.1:p.Thr167=
XM_011531864.1:c.500_505delinsCTGGAG	XP_011530166.1:p.Thr167=
XM_011531865.1:c.500_505delinsCTGGAG	XP_011530167.1:p.Thr167=
XM_011531866.1:c.500_505delinsCTGGAG	XP_011530168.1:p.Thr167=
XM_011531867.1:c.146_151delinsCTGGAG	XP_011530169.1:p.Thr49=
XR_427543.2:n.659_664delinsCTGGAG
XR_938721.1:n.675_680delinsCTGGAG
NM_001358921.1:c.350_355delinsCTGGAG	NP_001345850.1:p.Thr117=
NM_015697.8:c.500_505delinsCTGGAG	NP_056512.5:p.Thr167=
XM_011531855.3:c.350_355delinsCTGGAG	XP_011530157.2:p.Thr117=
XM_011531857.3:c.350_355delinsCTGGAG	XP_011530159.2:p.Thr117=
XM_011531859.3:c.350_355delinsCTGGAG	XP_011530161.2:p.Thr117=
XM_011531860.3:c.350_355delinsCTGGAG	XP_011530162.2:p.Thr117=
XM_011531862.3:c.350_355delinsCTGGAG	XP_011530164.2:p.Thr117=
XM_011531863.3:c.350_355delinsCTGGAG	XP_011530165.2:p.Thr117=
XM_011531866.3:c.350_355delinsCTGGAG	XP_011530168.2:p.Thr117=
XM_011531867.3:c.146_151delinsCTGGAG	XP_011530169.1:p.Thr49=
XM_017008031.2:c.146_151delinsCTGGAG	XP_016863520.1:p.Thr49=
XR_001741203.2:n.381_386delinsCTGGAG
XR_001741204.2:n.381_386delinsCTGGAG
XR_427543.4:n.381_386delinsCTGGAG
XR_938721.3:n.381_386delinsCTGGAG
NM_001358921.2:c.350_355delinsCTGGAG MANE Select	NP_001345850.1:p.Thr117=
NM_015697.9:c.500_505delinsCTGGAG	NP_056512.5:p.Thr167=