Canonical Allele Identifier: CA804720376

Gene: NDUFA2 IK

Linked Data

• dbSNP Id: rs1424916726
• gnomAD v3: 5-140647632-C-G
• gnomAD v4: 5-140647632-C-G
• MyVariant Identifiers: chr5:g.140027217C>G (hg19) ; chr5:g.140647632C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647632C>G , CM000667.2:g.140647632C>G	GRCh38
NC_000005.9:g.140027217C>G , CM000667.1:g.140027217C>G	GRCh37
NC_000005.8:g.140007401C>G	NCBI36
NG_021417.1:g.5154G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.8:c.-49G>C (NDUFA2)	ENSP00000252102.4:n.-49G>C
ENST00000502960.1:n.140G>C (NDUFA2)
ENST00000512088.1:c.-49G>C (NDUFA2)	ENSP00000427220.1:n.-49G>C
ENST00000513256.5:c.4+323C>G (IK)	ENSP00000425564.1:n.4+323C>G
NM_001185012.1:c.-49G>C (NDUFA2)	NP_001171941.1:n.-49G>C
NM_002488.4:c.-49G>C (NDUFA2)	NP_002479.1:n.-49G>C
NR_033697.1:n.154G>C (NDUFA2)