Canonical Allele Identifier: CA2675609504

Gene: NDUFA2 TMCO6

Linked Data

• gnomAD v4: 5-140645667-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140645668_140645669del , CM000667.2:g.140645668_140645669del	GRCh38
NC_000005.9:g.140025253_140025254del , CM000667.1:g.140025253_140025254del	GRCh37
NC_000005.8:g.140005437_140005438del	NCBI36
NG_021417.1:g.7117_7118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.218_219del (NDUFA2) MANE Select	ENSP00000252102.5:p.Gln73ArgfsTer12
ENST00000252102.8:c.218_219del (NDUFA2)	ENSP00000252102.4:p.Gln73ArgfsTer12
ENST00000502960.1:n.526_527del (NDUFA2)
ENST00000510680.1:n.59+1587_59+1588del (NDUFA2)
ENST00000512088.1:c.*34_*35del (NDUFA2)	ENSP00000427220.1:n.*34_*35del
NM_001185012.1:c.*34_*35del (NDUFA2)	NP_001171941.1:n.*34_*35del
NM_002488.4:c.218_219del (NDUFA2)	NP_002479.1:p.Gln73ArgfsTer12
NR_033697.1:n.540_541del (NDUFA2)
XM_011537663.1:c.1219-1147_1219-1146del (TMCO6)	XP_011535965.1:n.1219-1147_1219-1146del
XM_011537663.2:c.1219-1147_1219-1146del (TMCO6)	XP_011535965.1:n.1219-1147_1219-1146del
NM_002488.5:c.218_219del (NDUFA2) MANE Select	NP_002479.1:p.Gln73ArgfsTer12
NM_001185012.2:c.*34_*35del (NDUFA2)	NP_001171941.1:n.*34_*35del
NR_033697.2:n.385_386del (NDUFA2)