Canonical Allele Identifier: CA3442459

Gene: NDUFA2 TMCO6

Linked Data

• dbSNP Id: rs764229251
• ExAC: 5:140025248 G / A
• gnomAD v2: 5-140025248-G-A
• gnomAD v3: 5-140645663-G-A
• gnomAD v4: 5-140645663-G-A
• MyVariant Identifiers: chr5:g.140025248G>A (hg19) ; chr5:g.140645663G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140645663G>A , CM000667.2:g.140645663G>A	GRCh38
NC_000005.9:g.140025248G>A , CM000667.1:g.140025248G>A	GRCh37
NC_000005.8:g.140005432G>A	NCBI36
NG_021417.1:g.7123C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.224C>T (NDUFA2) MANE Select	ENSP00000252102.5:p.Thr75Met
ENST00000252102.8:c.224C>T (NDUFA2)	ENSP00000252102.4:p.Thr75Met
ENST00000502960.1:n.532C>T (NDUFA2)
ENST00000510680.1:n.59+1593C>T (NDUFA2)
ENST00000512088.1:c.*40C>T (NDUFA2)	ENSP00000427220.1:n.*40C>T
NM_001185012.1:c.*40C>T (NDUFA2)	NP_001171941.1:n.*40C>T
NM_002488.4:c.224C>T (NDUFA2)	NP_002479.1:p.Thr75Met
NR_033697.1:n.546C>T (NDUFA2)
XM_011537663.1:c.1219-1152G>A (TMCO6)	XP_011535965.1:n.1219-1152G>A
XM_011537663.2:c.1219-1152G>A (TMCO6)	XP_011535965.1:n.1219-1152G>A
NM_002488.5:c.224C>T (NDUFA2) MANE Select	NP_002479.1:p.Thr75Met
NM_001185012.2:c.*40C>T (NDUFA2)	NP_001171941.1:n.*40C>T
NR_033697.2:n.391C>T (NDUFA2)