Canonical Allele Identifier: CA361216782

Gene: NDUFA2 IK

Linked Data

• dbSNP Id: rs1482102411
• gnomAD v2: 5-140027119-C-G
• gnomAD v4: 5-140647534-C-G
• MyVariant Identifiers: chr5:g.140027119C>G (hg19) ; chr5:g.140647534C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647534C>G , CM000667.2:g.140647534C>G	GRCh38
NC_000005.9:g.140027119C>G , CM000667.1:g.140027119C>G	GRCh37
NC_000005.8:g.140007303C>G	NCBI36
NG_021417.1:g.5252G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252102.9:c.50G>C (NDUFA2) MANE Select	ENSP00000252102.5:p.Arg17Pro
ENST00000252102.8:c.50G>C (NDUFA2)	ENSP00000252102.4:p.Arg17Pro
ENST00000502960.1:n.238G>C (NDUFA2)
ENST00000512088.1:c.50G>C (NDUFA2)	ENSP00000427220.1:p.Arg17Pro
ENST00000513256.5:c.4+225C>G (IK)	ENSP00000425564.1:n.4+225C>G
NM_001185012.1:c.50G>C (NDUFA2)	NP_001171941.1:p.Arg17Pro
NM_002488.4:c.50G>C (NDUFA2)	NP_002479.1:p.Arg17Pro
NR_033697.1:n.252G>C (NDUFA2)
NM_002488.5:c.50G>C (NDUFA2) MANE Select	NP_002479.1:p.Arg17Pro
NM_001185012.2:c.50G>C (NDUFA2)	NP_001171941.1:p.Arg17Pro
NR_033697.2:n.97G>C (NDUFA2)