Canonical Allele Identifier: CA2538244294
Gene: COQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.83273406_83273407insTTT , CM000666.2:g.83273406_83273407insTTT GRCh38
NC_000004.11:g.84194559_84194560insTTT , CM000666.1:g.84194559_84194560insTTT GRCh37
NC_000004.10:g.84413583_84413584insTTT NCBI36
NG_015825.1:g.16508_16509insAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000311469.9:c.692+89_692+90insAAA ENSP00000310873.4:n.692+89_692+90insAAA
ENST00000647002.2:c.542+89_542+90insAAA MANE Select ENSP00000495761.2:n.542+89_542+90insAAA
ENST00000311461.7:c.542+89_542+90insAAA ENSP00000311835.7:n.542+89_542+90insAAA
ENST00000311469.8:c.692+89_692+90insAAA ENSP00000310873.4:n.692+89_692+90insAAA
ENST00000503391.5:c.542+89_542+90insAAA ENSP00000426242.1:n.542+89_542+90insAAA
ENST00000503915.5:c.233+89_233+90insAAA ENSP00000427146.1:n.233+89_233+90insAAA
NM_015697.7:c.692+89_692+90insAAA NP_056512.5:n.692+89_692+90insAAA
XM_011531855.1:c.692+89_692+90insAAA XP_011530157.1:n.692+89_692+90insAAA
XM_011531856.1:c.692+89_692+90insAAA XP_011530158.1:n.692+89_692+90insAAA
XM_011531857.1:c.692+89_692+90insAAA XP_011530159.1:n.692+89_692+90insAAA
XM_011531858.1:c.692+89_692+90insAAA XP_011530160.1:n.692+89_692+90insAAA
XM_011531859.1:c.692+89_692+90insAAA XP_011530161.1:n.692+89_692+90insAAA
XM_011531860.1:c.692+89_692+90insAAA XP_011530162.1:n.692+89_692+90insAAA
XM_011531861.1:c.692+89_692+90insAAA XP_011530163.1:n.692+89_692+90insAAA
XM_011531862.1:c.692+89_692+90insAAA XP_011530164.1:n.692+89_692+90insAAA
XM_011531863.1:c.692+89_692+90insAAA XP_011530165.1:n.692+89_692+90insAAA
XM_011531864.1:c.692+89_692+90insAAA XP_011530166.1:n.692+89_692+90insAAA
XM_011531865.1:c.692+89_692+90insAAA XP_011530167.1:n.692+89_692+90insAAA
XM_011531866.1:c.692+89_692+90insAAA XP_011530168.1:n.692+89_692+90insAAA
XM_011531867.1:c.338+89_338+90insAAA XP_011530169.1:n.338+89_338+90insAAA
XR_427543.2:n.851+89_851+90insAAA
XR_938721.1:n.867+89_867+90insAAA
NM_001358921.1:c.542+89_542+90insAAA NP_001345850.1:n.542+89_542+90insAAA
NM_015697.8:c.692+89_692+90insAAA NP_056512.5:n.692+89_692+90insAAA
XM_011531855.3:c.542+89_542+90insAAA XP_011530157.2:n.542+89_542+90insAAA
XM_011531857.3:c.542+89_542+90insAAA XP_011530159.2:n.542+89_542+90insAAA
XM_011531859.3:c.542+89_542+90insAAA XP_011530161.2:n.542+89_542+90insAAA
XM_011531860.3:c.542+89_542+90insAAA XP_011530162.2:n.542+89_542+90insAAA
XM_011531862.3:c.542+89_542+90insAAA XP_011530164.2:n.542+89_542+90insAAA
XM_011531863.3:c.542+89_542+90insAAA XP_011530165.2:n.542+89_542+90insAAA
XM_011531866.3:c.542+89_542+90insAAA XP_011530168.2:n.542+89_542+90insAAA
XM_011531867.3:c.338+89_338+90insAAA XP_011530169.1:n.338+89_338+90insAAA
XM_017008031.2:c.338+89_338+90insAAA XP_016863520.1:n.338+89_338+90insAAA
XM_017008032.2:c.-45+89_-45+90insAAA XP_016863521.1:n.-45+89_-45+90insAAA
XR_001741203.2:n.573+89_573+90insAAA
XR_001741204.2:n.573+89_573+90insAAA
XR_427543.4:n.573+89_573+90insAAA
XR_938721.3:n.573+89_573+90insAAA
NM_001358921.2:c.542+89_542+90insAAA MANE Select NP_001345850.1:n.542+89_542+90insAAA
NM_015697.9:c.692+89_692+90insAAA NP_056512.5:n.692+89_692+90insAAA