Canonical Allele Identifier: CA361215465

Gene: NDUFA2 TMCO6

Linked Data

• MyVariant Identifiers: chr5:g.140025254T>A (hg19) ; chr5:g.140645669T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140645669T>A , CM000667.2:g.140645669T>A	GRCh38
NC_000005.9:g.140025254T>A , CM000667.1:g.140025254T>A	GRCh37
NC_000005.8:g.140005438T>A	NCBI36
NG_021417.1:g.7117A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.218A>T (NDUFA2) MANE Select	ENSP00000252102.5:p.Gln73Leu
ENST00000252102.8:c.218A>T (NDUFA2)	ENSP00000252102.4:p.Gln73Leu
ENST00000502960.1:n.526A>T (NDUFA2)
ENST00000510680.1:n.59+1587A>T (NDUFA2)
ENST00000512088.1:c.*34A>T (NDUFA2)	ENSP00000427220.1:n.*34A>T
NM_001185012.1:c.*34A>T (NDUFA2)	NP_001171941.1:n.*34A>T
NM_002488.4:c.218A>T (NDUFA2)	NP_002479.1:p.Gln73Leu
NR_033697.1:n.540A>T (NDUFA2)
XM_011537663.1:c.1219-1146T>A (TMCO6)	XP_011535965.1:n.1219-1146T>A
XM_011537663.2:c.1219-1146T>A (TMCO6)	XP_011535965.1:n.1219-1146T>A
NM_002488.5:c.218A>T (NDUFA2) MANE Select	NP_002479.1:p.Gln73Leu
NM_001185012.2:c.*34A>T (NDUFA2)	NP_001171941.1:n.*34A>T
NR_033697.2:n.385A>T (NDUFA2)