Canonical Allele Identifier: CA563500010

Gene: NDUFA2 IK

Linked Data

• dbSNP Id: rs751299721
• gnomAD v2: 5-140027189-C-A
• gnomAD v4: 5-140647604-C-A
• MyVariant Identifiers: chr5:g.140027189C>A (hg19) ; chr5:g.140647604C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647604C>A , CM000667.2:g.140647604C>A	GRCh38
NC_000005.9:g.140027189C>A , CM000667.1:g.140027189C>A	GRCh37
NC_000005.8:g.140007373C>A	NCBI36
NG_021417.1:g.5182G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.-21G>T (NDUFA2) MANE Select	ENSP00000252102.5:n.-21G>T
ENST00000252102.8:c.-21G>T (NDUFA2)	ENSP00000252102.4:n.-21G>T
ENST00000502960.1:n.168G>T (NDUFA2)
ENST00000512088.1:c.-21G>T (NDUFA2)	ENSP00000427220.1:n.-21G>T
ENST00000513256.5:c.4+295C>A (IK)	ENSP00000425564.1:n.4+295C>A
NM_001185012.1:c.-21G>T (NDUFA2)	NP_001171941.1:n.-21G>T
NM_002488.4:c.-21G>T (NDUFA2)	NP_002479.1:n.-21G>T
NR_033697.1:n.182G>T (NDUFA2)
NM_002488.5:c.-21G>T (NDUFA2) MANE Select	NP_002479.1:n.-21G>T
NM_001185012.2:c.-21G>T (NDUFA2)	NP_001171941.1:n.-21G>T
NR_033697.2:n.27G>T (NDUFA2)