Canonical Allele Identifier: CA1472709117
Community Standard Title: NM_001358921.2(COQ2):c.755C= (p.Ala252=)
Gene: COQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.83269867G= , CM000666.2:g.83269867G= GRCh38
NC_000004.11:g.84191020G= , CM000666.1:g.84191020G= GRCh37
NC_000004.10:g.84410044G= NCBI36
NG_015825.1:g.20048C=

Transcript Alleles

HGVS Amino-acid Change
NM_001358921.2:c.755C= MANE Select NP_001345850.1:p.Ala252=
ENST00000647002.2:c.755C= MANE Select ENSP00000495761.2:p.Ala252=
NM_001358921.1:c.755C= NP_001345850.1:p.Ala252=
NM_015697.7:c.905C= NP_056512.5:p.Ala302=
NM_015697.8:c.905C= NP_056512.5:p.Ala302=
NM_015697.9:c.905C= NP_056512.5:p.Ala302=
ENST00000311461.7:c.755C= ENSP00000311835.7:p.Ala252=
ENST00000311469.8:c.905C= ENSP00000310873.4:p.Ala302=
ENST00000311469.9:c.905C= ENSP00000310873.4:p.Ala302=
ENST00000503391.5:c.629-2093C= ENSP00000426242.1:n.629-2093C=
ENST00000503915.5:c.446C= ENSP00000427146.1:p.Ala149=
XM_011531855.1:c.905C= XP_011530157.1:p.Ala302=
XM_011531855.3:c.755C= XP_011530157.2:p.Ala252=
XM_011531856.1:c.905C= XP_011530158.1:p.Ala302=
XM_011531857.1:c.905C= XP_011530159.1:p.Ala302=
XM_011531857.3:c.755C= XP_011530159.2:p.Ala252=
XM_011531858.1:c.905C= XP_011530160.1:p.Ala302=
XM_011531859.1:c.905C= XP_011530161.1:p.Ala302=
XM_011531859.3:c.755C= XP_011530161.2:p.Ala252=
XM_011531860.1:c.905C= XP_011530162.1:p.Ala302=
XM_011531860.3:c.755C= XP_011530162.2:p.Ala252=
XM_011531861.1:c.905C= XP_011530163.1:p.Ala302=
XM_011531862.1:c.905C= XP_011530164.1:p.Ala302=
XM_011531862.3:c.755C= XP_011530164.2:p.Ala252=
XM_011531863.1:c.905C= XP_011530165.1:p.Ala302=
XM_011531863.3:c.755C= XP_011530165.2:p.Ala252=
XM_011531864.1:c.905C= XP_011530166.1:p.Ala302=
XM_011531865.1:c.905C= XP_011530167.1:p.Ala302=
XM_011531866.1:c.905C= XP_011530168.1:p.Ala302=
XM_011531866.3:c.755C= XP_011530168.2:p.Ala252=
XM_011531867.1:c.551C= XP_011530169.1:p.Ala184=
XM_011531867.3:c.551C= XP_011530169.1:p.Ala184=
XM_017008031.2:c.551C= XP_016863520.1:p.Ala184=
XM_017008032.2:c.164C= XP_016863521.1:p.Ala55=
XR_001741203.2:n.786C=
XR_001741204.2:n.781C=
XR_427543.2:n.1064C=
XR_427543.4:n.786C=
XR_938721.1:n.1075C=
XR_938721.3:n.781C=