Canonical Allele Identifier: CA16042587

Gene: NDUFA2 IK TMCO6

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647267del , CM000667.2:g.140647267del	GRCh38
NC_000005.9:g.140026852del , CM000667.1:g.140026852del	GRCh37
NC_000005.8:g.140007036del	NCBI36
NG_021417.1:g.5521del

Transcript Alleles

HGVS	Amino-acid Change
NM_002488.5:c.199del (NDUFA2) MANE Select	NP_002479.1:p.Ala67ProfsTer13
ENST00000252102.9:c.199del (NDUFA2) MANE Select	ENSP00000252102.5:p.Ala67ProfsTer13
NM_001185012.1:c.199del (NDUFA2)	NP_001171941.1:p.Ala67ProfsTer?
NM_001185012.2:c.199del (NDUFA2)	NP_001171941.1:p.Ala67ProfsTer?
NM_002488.4:c.199del (NDUFA2)	NP_002479.1:p.Ala67ProfsTer13
NR_033697.1:n.521del (NDUFA2)
NR_033697.2:n.366del (NDUFA2)
ENST00000252102.8:c.199del (NDUFA2)	ENSP00000252102.4:p.Ala67ProfsTer13
ENST00000502960.1:n.507del (NDUFA2)
ENST00000510680.1:n.50del (NDUFA2)
ENST00000512088.1:c.199del (NDUFA2)	ENSP00000427220.1:p.Ala67ProfsTer?
ENST00000513256.5:c.-39del (IK)	ENSP00000425564.1:n.-39del
XM_011537663.2:c.*450del (TMCO6)	XP_011535965.1:n.*450del