Canonical Allele Identifier: CA2675613136

Gene: NDUFA2 IK

Linked Data

• gnomAD v4: 5-140647588-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647588G>C , CM000667.2:g.140647588G>C	GRCh38
NC_000005.9:g.140027173G>C , CM000667.1:g.140027173G>C	GRCh37
NC_000005.8:g.140007357G>C	NCBI36
NG_021417.1:g.5198C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.-5C>G (NDUFA2) MANE Select	ENSP00000252102.5:n.-5C>G
ENST00000252102.8:c.-5C>G (NDUFA2)	ENSP00000252102.4:n.-5C>G
ENST00000502960.1:n.184C>G (NDUFA2)
ENST00000512088.1:c.-5C>G (NDUFA2)	ENSP00000427220.1:n.-5C>G
ENST00000513256.5:c.4+279G>C (IK)	ENSP00000425564.1:n.4+279G>C
NM_001185012.1:c.-5C>G (NDUFA2)	NP_001171941.1:n.-5C>G
NM_002488.4:c.-5C>G (NDUFA2)	NP_002479.1:n.-5C>G
NR_033697.1:n.198C>G (NDUFA2)
NM_002488.5:c.-5C>G (NDUFA2) MANE Select	NP_002479.1:n.-5C>G
NM_001185012.2:c.-5C>G (NDUFA2)	NP_001171941.1:n.-5C>G
NR_033697.2:n.43C>G (NDUFA2)