Canonical Allele Identifier: CA361216777

Gene: NDUFA2 IK

Linked Data

• dbSNP Id: rs2149803291
• MyVariant Identifiers: chr5:g.140027116T>C (hg19) ; chr5:g.140647531T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647531T>C , CM000667.2:g.140647531T>C	GRCh38
NC_000005.9:g.140027116T>C , CM000667.1:g.140027116T>C	GRCh37
NC_000005.8:g.140007300T>C	NCBI36
NG_021417.1:g.5255A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.53A>G (NDUFA2) MANE Select	ENSP00000252102.5:p.Glu18Gly
ENST00000252102.8:c.53A>G (NDUFA2)	ENSP00000252102.4:p.Glu18Gly
ENST00000502960.1:n.241A>G (NDUFA2)
ENST00000512088.1:c.53A>G (NDUFA2)	ENSP00000427220.1:p.Glu18Gly
ENST00000513256.5:c.4+222T>C (IK)	ENSP00000425564.1:n.4+222T>C
NM_001185012.1:c.53A>G (NDUFA2)	NP_001171941.1:p.Glu18Gly
NM_002488.4:c.53A>G (NDUFA2)	NP_002479.1:p.Glu18Gly
NR_033697.1:n.255A>G (NDUFA2)
NM_002488.5:c.53A>G (NDUFA2) MANE Select	NP_002479.1:p.Glu18Gly
NM_001185012.2:c.53A>G (NDUFA2)	NP_001171941.1:p.Glu18Gly
NR_033697.2:n.100A>G (NDUFA2)