Canonical Allele Identifier: CA361216797

Gene: NDUFA2 IK

Linked Data

• gnomAD v4: 5-140647543-A-C
• MyVariant Identifiers: chr5:g.140027128A>C (hg19) ; chr5:g.140647543A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647543A>C , CM000667.2:g.140647543A>C	GRCh38
NC_000005.9:g.140027128A>C , CM000667.1:g.140027128A>C	GRCh37
NC_000005.8:g.140007312A>C	NCBI36
NG_021417.1:g.5243T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.41T>G (NDUFA2) MANE Select	ENSP00000252102.5:p.Leu14Arg
ENST00000252102.8:c.41T>G (NDUFA2)	ENSP00000252102.4:p.Leu14Arg
ENST00000502960.1:n.229T>G (NDUFA2)
ENST00000512088.1:c.41T>G (NDUFA2)	ENSP00000427220.1:p.Leu14Arg
ENST00000513256.5:c.4+234A>C (IK)	ENSP00000425564.1:n.4+234A>C
NM_001185012.1:c.41T>G (NDUFA2)	NP_001171941.1:p.Leu14Arg
NM_002488.4:c.41T>G (NDUFA2)	NP_002479.1:p.Leu14Arg
NR_033697.1:n.243T>G (NDUFA2)
NM_002488.5:c.41T>G (NDUFA2) MANE Select	NP_002479.1:p.Leu14Arg
NM_001185012.2:c.41T>G (NDUFA2)	NP_001171941.1:p.Leu14Arg
NR_033697.2:n.88T>G (NDUFA2)