Canonical Allele Identifier: CA446629173

Gene: NDUFA2 IK

Linked Data

• dbSNP Id: rs1399197160
• gnomAD v2: 5-140027142-T-C
• MyVariant Identifiers: chr5:g.140027142T>C (hg19) ; chr5:g.140647557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647557T>C , CM000667.2:g.140647557T>C	GRCh38
NC_000005.9:g.140027142T>C , CM000667.1:g.140027142T>C	GRCh37
NC_000005.8:g.140007326T>C	NCBI36
NG_021417.1:g.5229A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.27A>G (NDUFA2) MANE Select	ENSP00000252102.5:p.Gly9=
ENST00000252102.8:c.27A>G (NDUFA2)	ENSP00000252102.4:p.Gly9=
ENST00000502960.1:n.215A>G (NDUFA2)
ENST00000512088.1:c.27A>G (NDUFA2)	ENSP00000427220.1:p.Gly9=
ENST00000513256.5:c.4+248T>C (IK)	ENSP00000425564.1:n.4+248T>C
NM_001185012.1:c.27A>G (NDUFA2)	NP_001171941.1:p.Gly9=
NM_002488.4:c.27A>G (NDUFA2)	NP_002479.1:p.Gly9=
NR_033697.1:n.229A>G (NDUFA2)
NM_002488.5:c.27A>G (NDUFA2) MANE Select	NP_002479.1:p.Gly9=
NM_001185012.2:c.27A>G (NDUFA2)	NP_001171941.1:p.Gly9=
NR_033697.2:n.74A>G (NDUFA2)