Canonical Allele Identifier: CA361216788

Gene: NDUFA2 IK

Linked Data

• dbSNP Id: rs1757476606
• gnomAD v4: 5-140647537-A-G
• MyVariant Identifiers: chr5:g.140027122A>G (hg19) ; chr5:g.140647537A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647537A>G , CM000667.2:g.140647537A>G	GRCh38
NC_000005.9:g.140027122A>G , CM000667.1:g.140027122A>G	GRCh37
NC_000005.8:g.140007306A>G	NCBI36
NG_021417.1:g.5249T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.47T>C (NDUFA2) MANE Select	ENSP00000252102.5:p.Leu16Pro
ENST00000252102.8:c.47T>C (NDUFA2)	ENSP00000252102.4:p.Leu16Pro
ENST00000502960.1:n.235T>C (NDUFA2)
ENST00000512088.1:c.47T>C (NDUFA2)	ENSP00000427220.1:p.Leu16Pro
ENST00000513256.5:c.4+228A>G (IK)	ENSP00000425564.1:n.4+228A>G
NM_001185012.1:c.47T>C (NDUFA2)	NP_001171941.1:p.Leu16Pro
NM_002488.4:c.47T>C (NDUFA2)	NP_002479.1:p.Leu16Pro
NR_033697.1:n.249T>C (NDUFA2)
NM_002488.5:c.47T>C (NDUFA2) MANE Select	NP_002479.1:p.Leu16Pro
NM_001185012.2:c.47T>C (NDUFA2)	NP_001171941.1:p.Leu16Pro
NR_033697.2:n.94T>C (NDUFA2)