Canonical Allele Identifier: CA325196

Gene: NDUFA2 IK TMCO6

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647330T>G , CM000667.2:g.140647330T>G	GRCh38
NC_000005.9:g.140026915T>G , CM000667.1:g.140026915T>G	GRCh37
NC_000005.8:g.140007099T>G	NCBI36
NG_021417.1:g.5456A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002488.5:c.134A>C (NDUFA2) MANE Select	NP_002479.1:p.Lys45Thr
ENST00000252102.9:c.134A>C (NDUFA2) MANE Select	ENSP00000252102.5:p.Lys45Thr
NM_001185012.1:c.134A>C (NDUFA2)	NP_001171941.1:p.Lys45Thr
NM_001185012.2:c.134A>C (NDUFA2)	NP_001171941.1:p.Lys45Thr
NM_002488.4:c.134A>C (NDUFA2)	NP_002479.1:p.Lys45Thr
NR_033697.1:n.456A>C (NDUFA2)
NR_033697.2:n.301A>C (NDUFA2)
ENST00000252102.8:c.134A>C (NDUFA2)	ENSP00000252102.4:p.Lys45Thr
ENST00000502960.1:n.442A>C (NDUFA2)
ENST00000512088.1:c.134A>C (NDUFA2)	ENSP00000427220.1:p.Lys45Thr
ENST00000513256.5:c.4+21T>G (IK)	ENSP00000425564.1:n.4+21T>G
XM_011537663.2:c.*513T>G (TMCO6)	XP_011535965.1:n.*513T>G