Canonical Allele Identifier: CA128349720

Gene: NDUFA2 TMCO6

Linked Data

• dbSNP Id: rs914505671
• MyVariant Identifiers: chr5:g.140025252C>T (hg19) ; chr5:g.140645667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140645667C>T , CM000667.2:g.140645667C>T	GRCh38
NC_000005.9:g.140025252C>T , CM000667.1:g.140025252C>T	GRCh37
NC_000005.8:g.140005436C>T	NCBI36
NG_021417.1:g.7119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.220G>A (NDUFA2) MANE Select	ENSP00000252102.5:p.Glu74Lys
ENST00000252102.8:c.220G>A (NDUFA2)	ENSP00000252102.4:p.Glu74Lys
ENST00000502960.1:n.528G>A (NDUFA2)
ENST00000510680.1:n.59+1589G>A (NDUFA2)
ENST00000512088.1:c.*36G>A (NDUFA2)	ENSP00000427220.1:n.*36G>A
NM_001185012.1:c.*36G>A (NDUFA2)	NP_001171941.1:n.*36G>A
NM_002488.4:c.220G>A (NDUFA2)	NP_002479.1:p.Glu74Lys
NR_033697.1:n.542G>A (NDUFA2)
XM_011537663.1:c.1219-1148C>T (TMCO6)	XP_011535965.1:n.1219-1148C>T
XM_011537663.2:c.1219-1148C>T (TMCO6)	XP_011535965.1:n.1219-1148C>T
NM_002488.5:c.220G>A (NDUFA2) MANE Select	NP_002479.1:p.Glu74Lys
NM_001185012.2:c.*36G>A (NDUFA2)	NP_001171941.1:n.*36G>A
NR_033697.2:n.387G>A (NDUFA2)