Canonical Allele Identifier: CA446629103

Gene: NDUFA2 IK

Linked Data

• gnomAD v4: 5-140647536-C-G
• MyVariant Identifiers: chr5:g.140027121C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647536C>G , CM000667.2:g.140647536C>G	GRCh38
NC_000005.9:g.140027121C>G , CM000667.1:g.140027121C>G	GRCh37
NC_000005.8:g.140007305C>G	NCBI36
NG_021417.1:g.5250G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252102.9:c.48G>C (NDUFA2) MANE Select	ENSP00000252102.5:p.Leu16=
ENST00000252102.8:c.48G>C (NDUFA2)	ENSP00000252102.4:p.Leu16=
ENST00000502960.1:n.236G>C (NDUFA2)
ENST00000512088.1:c.48G>C (NDUFA2)	ENSP00000427220.1:p.Leu16=
ENST00000513256.5:c.4+227C>G (IK)	ENSP00000425564.1:n.4+227C>G
NM_001185012.1:c.48G>C (NDUFA2)	NP_001171941.1:p.Leu16=
NM_002488.4:c.48G>C (NDUFA2)	NP_002479.1:p.Leu16=
NR_033697.1:n.250G>C (NDUFA2)
NM_002488.5:c.48G>C (NDUFA2) MANE Select	NP_002479.1:p.Leu16=
NM_001185012.2:c.48G>C (NDUFA2)	NP_001171941.1:p.Leu16=
NR_033697.2:n.95G>C (NDUFA2)