Canonical Allele Identifier: CA3442458

Gene: NDUFA2 TMCO6

Linked Data

• ClinVar Variation Id: 2956758
• ClinVar RCV Id: RCV003816469
• dbSNP Id: rs112106311
• ExAC: 5:140025247 C / T
• gnomAD v2: 5-140025247-C-T
• gnomAD v3: 5-140645662-C-T
• gnomAD v4: 5-140645662-C-T
• COSMIC: COSM4972459
• MyVariant Identifiers: chr5:g.140025247C>T (hg19) ; chr5:g.140645662C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140645662C>T , CM000667.2:g.140645662C>T	GRCh38
NC_000005.9:g.140025247C>T , CM000667.1:g.140025247C>T	GRCh37
NC_000005.8:g.140005431C>T	NCBI36
NG_021417.1:g.7124G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.225G>A (NDUFA2) MANE Select	ENSP00000252102.5:p.Thr75=
ENST00000252102.8:c.225G>A (NDUFA2)	ENSP00000252102.4:p.Thr75=
ENST00000502960.1:n.533G>A (NDUFA2)
ENST00000510680.1:n.59+1594G>A (NDUFA2)
ENST00000512088.1:c.*41G>A (NDUFA2)	ENSP00000427220.1:n.*41G>A
NM_001185012.1:c.*41G>A (NDUFA2)	NP_001171941.1:n.*41G>A
NM_002488.4:c.225G>A (NDUFA2)	NP_002479.1:p.Thr75=
NR_033697.1:n.547G>A (NDUFA2)
XM_011537663.1:c.1219-1153C>T (TMCO6)	XP_011535965.1:n.1219-1153C>T
XM_011537663.2:c.1219-1153C>T (TMCO6)	XP_011535965.1:n.1219-1153C>T
NM_002488.5:c.225G>A (NDUFA2) MANE Select	NP_002479.1:p.Thr75=
NM_001185012.2:c.*41G>A (NDUFA2)	NP_001171941.1:n.*41G>A
NR_033697.2:n.392G>A (NDUFA2)