Canonical Allele Identifier: CA446628478

Gene: NDUFA2 TMCO6

Linked Data

• MyVariant Identifiers: chr5:g.140025256G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140645671G>C , CM000667.2:g.140645671G>C	GRCh38
NC_000005.9:g.140025256G>C , CM000667.1:g.140025256G>C	GRCh37
NC_000005.8:g.140005440G>C	NCBI36
NG_021417.1:g.7115C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.216C>G (NDUFA2) MANE Select	ENSP00000252102.5:p.Gly72=
ENST00000252102.8:c.216C>G (NDUFA2)	ENSP00000252102.4:p.Gly72=
ENST00000502960.1:n.524C>G (NDUFA2)
ENST00000510680.1:n.59+1585C>G (NDUFA2)
ENST00000512088.1:c.*32C>G (NDUFA2)	ENSP00000427220.1:n.*32C>G
NM_001185012.1:c.*32C>G (NDUFA2)	NP_001171941.1:n.*32C>G
NM_002488.4:c.216C>G (NDUFA2)	NP_002479.1:p.Gly72=
NR_033697.1:n.538C>G (NDUFA2)
XM_011537663.1:c.1219-1144G>C (TMCO6)	XP_011535965.1:n.1219-1144G>C
XM_011537663.2:c.1219-1144G>C (TMCO6)	XP_011535965.1:n.1219-1144G>C
NM_002488.5:c.216C>G (NDUFA2) MANE Select	NP_002479.1:p.Gly72=
NM_001185012.2:c.*32C>G (NDUFA2)	NP_001171941.1:n.*32C>G
NR_033697.2:n.383C>G (NDUFA2)