Canonical Allele Identifier: CA361215458

Gene: NDUFA2 TMCO6

Linked Data

• MyVariant Identifiers: chr5:g.140025253T>G (hg19) ; chr5:g.140645668T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140645668T>G , CM000667.2:g.140645668T>G	GRCh38
NC_000005.9:g.140025253T>G , CM000667.1:g.140025253T>G	GRCh37
NC_000005.8:g.140005437T>G	NCBI36
NG_021417.1:g.7118A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.219A>C (NDUFA2) MANE Select	ENSP00000252102.5:p.Gln73His
ENST00000252102.8:c.219A>C (NDUFA2)	ENSP00000252102.4:p.Gln73His
ENST00000502960.1:n.527A>C (NDUFA2)
ENST00000510680.1:n.59+1588A>C (NDUFA2)
ENST00000512088.1:c.*35A>C (NDUFA2)	ENSP00000427220.1:n.*35A>C
NM_001185012.1:c.*35A>C (NDUFA2)	NP_001171941.1:n.*35A>C
NM_002488.4:c.219A>C (NDUFA2)	NP_002479.1:p.Gln73His
NR_033697.1:n.541A>C (NDUFA2)
XM_011537663.1:c.1219-1147T>G (TMCO6)	XP_011535965.1:n.1219-1147T>G
XM_011537663.2:c.1219-1147T>G (TMCO6)	XP_011535965.1:n.1219-1147T>G
NM_002488.5:c.219A>C (NDUFA2) MANE Select	NP_002479.1:p.Gln73His
NM_001185012.2:c.*35A>C (NDUFA2)	NP_001171941.1:n.*35A>C
NR_033697.2:n.386A>C (NDUFA2)