Canonical Allele Identifier: CA361216780

Gene: NDUFA2 IK

Linked Data

• dbSNP Id: rs1757476208
• gnomAD v4: 5-140647532-C-T
• MyVariant Identifiers: chr5:g.140027117C>T (hg19) ; chr5:g.140647532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647532C>T , CM000667.2:g.140647532C>T	GRCh38
NC_000005.9:g.140027117C>T , CM000667.1:g.140027117C>T	GRCh37
NC_000005.8:g.140007301C>T	NCBI36
NG_021417.1:g.5254G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.52G>A (NDUFA2) MANE Select	ENSP00000252102.5:p.Glu18Lys
ENST00000252102.8:c.52G>A (NDUFA2)	ENSP00000252102.4:p.Glu18Lys
ENST00000502960.1:n.240G>A (NDUFA2)
ENST00000512088.1:c.52G>A (NDUFA2)	ENSP00000427220.1:p.Glu18Lys
ENST00000513256.5:c.4+223C>T (IK)	ENSP00000425564.1:n.4+223C>T
NM_001185012.1:c.52G>A (NDUFA2)	NP_001171941.1:p.Glu18Lys
NM_002488.4:c.52G>A (NDUFA2)	NP_002479.1:p.Glu18Lys
NR_033697.1:n.254G>A (NDUFA2)
NM_002488.5:c.52G>A (NDUFA2) MANE Select	NP_002479.1:p.Glu18Lys
NM_001185012.2:c.52G>A (NDUFA2)	NP_001171941.1:p.Glu18Lys
NR_033697.2:n.99G>A (NDUFA2)