Canonical Allele Identifier: CA563500011

Gene: NDUFA2 IK

Linked Data

• dbSNP Id: rs1309450190
• gnomAD v2: 5-140027190-C-G
• gnomAD v4: 5-140647605-C-G
• MyVariant Identifiers: chr5:g.140027190C>G (hg19) ; chr5:g.140647605C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647605C>G , CM000667.2:g.140647605C>G	GRCh38
NC_000005.9:g.140027190C>G , CM000667.1:g.140027190C>G	GRCh37
NC_000005.8:g.140007374C>G	NCBI36
NG_021417.1:g.5181G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.-22G>C (NDUFA2) MANE Select	ENSP00000252102.5:n.-22G>C
ENST00000252102.8:c.-22G>C (NDUFA2)	ENSP00000252102.4:n.-22G>C
ENST00000502960.1:n.167G>C (NDUFA2)
ENST00000512088.1:c.-22G>C (NDUFA2)	ENSP00000427220.1:n.-22G>C
ENST00000513256.5:c.4+296C>G (IK)	ENSP00000425564.1:n.4+296C>G
NM_001185012.1:c.-22G>C (NDUFA2)	NP_001171941.1:n.-22G>C
NM_002488.4:c.-22G>C (NDUFA2)	NP_002479.1:n.-22G>C
NR_033697.1:n.181G>C (NDUFA2)
NM_002488.5:c.-22G>C (NDUFA2) MANE Select	NP_002479.1:n.-22G>C
NM_001185012.2:c.-22G>C (NDUFA2)	NP_001171941.1:n.-22G>C
NR_033697.2:n.26G>C (NDUFA2)