Canonical Allele Identifier: CA446629105

Gene: NDUFA2 IK

Linked Data

• dbSNP Id: rs1287014184
• gnomAD v4: 5-140647538-G-A
• MyVariant Identifiers: chr5:g.140027123G>A (hg19) ; chr5:g.140647538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647538G>A , CM000667.2:g.140647538G>A	GRCh38
NC_000005.9:g.140027123G>A , CM000667.1:g.140027123G>A	GRCh37
NC_000005.8:g.140007307G>A	NCBI36
NG_021417.1:g.5248C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.46C>T (NDUFA2) MANE Select	ENSP00000252102.5:p.Leu16=
ENST00000252102.8:c.46C>T (NDUFA2)	ENSP00000252102.4:p.Leu16=
ENST00000502960.1:n.234C>T (NDUFA2)
ENST00000512088.1:c.46C>T (NDUFA2)	ENSP00000427220.1:p.Leu16=
ENST00000513256.5:c.4+229G>A (IK)	ENSP00000425564.1:n.4+229G>A
NM_001185012.1:c.46C>T (NDUFA2)	NP_001171941.1:p.Leu16=
NM_002488.4:c.46C>T (NDUFA2)	NP_002479.1:p.Leu16=
NR_033697.1:n.248C>T (NDUFA2)
NM_002488.5:c.46C>T (NDUFA2) MANE Select	NP_002479.1:p.Leu16=
NM_001185012.2:c.46C>T (NDUFA2)	NP_001171941.1:p.Leu16=
NR_033697.2:n.93C>T (NDUFA2)