Canonical Allele Identifier: CA1586824651

Gene: NDUFA2 TMCO6

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140645661_140645662delinsTC , CM000667.2:g.140645661_140645662delinsTC	GRCh38
NC_000005.9:g.140025246_140025247delinsTC , CM000667.1:g.140025246_140025247delinsTC	GRCh37
NC_000005.8:g.140005430_140005431delinsTC	NCBI36
NG_021417.1:g.7124_7125delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.225_226delinsGA (NDUFA2) MANE Select	ENSP00000252102.5:p.Thr75=
ENST00000252102.8:c.225_226delinsGA (NDUFA2)	ENSP00000252102.4:p.Thr75=
ENST00000502960.1:n.533_534delinsGA (NDUFA2)
ENST00000510680.1:n.59+1594_59+1595delinsGA (NDUFA2)
ENST00000512088.1:c.*41_*42delinsGA (NDUFA2)	ENSP00000427220.1:n.*41_*42delinsGA
NM_001185012.1:c.*41_*42delinsGA (NDUFA2)	NP_001171941.1:n.*41_*42delinsGA
NM_002488.4:c.225_226delinsGA (NDUFA2)	NP_002479.1:p.Thr75=
NR_033697.1:n.547_548delinsGA (NDUFA2)
XM_011537663.1:c.1219-1154_1219-1153delinsTC (TMCO6)	XP_011535965.1:n.1219-1154_1219-1153delinsTC
XM_011537663.2:c.1219-1154_1219-1153delinsTC (TMCO6)	XP_011535965.1:n.1219-1154_1219-1153delinsTC
NM_002488.5:c.225_226delinsGA (NDUFA2) MANE Select	NP_002479.1:p.Thr75=
NM_001185012.2:c.*41_*42delinsGA (NDUFA2)	NP_001171941.1:n.*41_*42delinsGA
NR_033697.2:n.392_393delinsGA (NDUFA2)