Canonical Allele Identifier: CA3442590

Gene: NDUFA2 IK

Linked Data

• ClinVar Variation Id: 351227
• ClinVar RCV Id: RCV000263224 ; RCV000612041
• dbSNP Id: rs143857164
• ExAC: 5:140027218 C / T
• gnomAD v2: 5-140027218-C-T
• gnomAD v3: 5-140647633-C-T
• gnomAD v4: 5-140647633-C-T
• MyVariant Identifiers: chr5:g.140027218C>T (hg19) ; chr5:g.140647633C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647633C>T , CM000667.2:g.140647633C>T	GRCh38
NC_000005.9:g.140027218C>T , CM000667.1:g.140027218C>T	GRCh37
NC_000005.8:g.140007402C>T	NCBI36
NG_021417.1:g.5153G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.8:c.-50G>A (NDUFA2)	ENSP00000252102.4:n.-50G>A
ENST00000502960.1:n.139G>A (NDUFA2)
ENST00000512088.1:c.-50G>A (NDUFA2)	ENSP00000427220.1:n.-50G>A
ENST00000513256.5:c.4+324C>T (IK)	ENSP00000425564.1:n.4+324C>T
NM_001185012.1:c.-50G>A (NDUFA2)	NP_001171941.1:n.-50G>A
NM_002488.4:c.-50G>A (NDUFA2)	NP_002479.1:n.-50G>A
NR_033697.1:n.153G>A (NDUFA2)