Canonical Allele Identifier: CA361215463

Gene: NDUFA2 TMCO6

Linked Data

• dbSNP Id: rs1439294049
• gnomAD v2: 5-140025254-T-C
• gnomAD v4: 5-140645669-T-C
• MyVariant Identifiers: chr5:g.140025254T>C (hg19) ; chr5:g.140645669T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140645669T>C , CM000667.2:g.140645669T>C	GRCh38
NC_000005.9:g.140025254T>C , CM000667.1:g.140025254T>C	GRCh37
NC_000005.8:g.140005438T>C	NCBI36
NG_021417.1:g.7117A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.218A>G (NDUFA2) MANE Select	ENSP00000252102.5:p.Gln73Arg
ENST00000252102.8:c.218A>G (NDUFA2)	ENSP00000252102.4:p.Gln73Arg
ENST00000502960.1:n.526A>G (NDUFA2)
ENST00000510680.1:n.59+1587A>G (NDUFA2)
ENST00000512088.1:c.*34A>G (NDUFA2)	ENSP00000427220.1:n.*34A>G
NM_001185012.1:c.*34A>G (NDUFA2)	NP_001171941.1:n.*34A>G
NM_002488.4:c.218A>G (NDUFA2)	NP_002479.1:p.Gln73Arg
NR_033697.1:n.540A>G (NDUFA2)
XM_011537663.1:c.1219-1146T>C (TMCO6)	XP_011535965.1:n.1219-1146T>C
XM_011537663.2:c.1219-1146T>C (TMCO6)	XP_011535965.1:n.1219-1146T>C
NM_002488.5:c.218A>G (NDUFA2) MANE Select	NP_002479.1:p.Gln73Arg
NM_001185012.2:c.*34A>G (NDUFA2)	NP_001171941.1:n.*34A>G
NR_033697.2:n.385A>G (NDUFA2)