Canonical Allele Identifier: CA1586824681
Gene: NDUFA2 HGNC NCBI
TMCO6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140645665_140645666delinsCT , CM000667.2:g.140645665_140645666delinsCT GRCh38
NC_000005.9:g.140025250_140025251delinsCT , CM000667.1:g.140025250_140025251delinsCT GRCh37
NC_000005.8:g.140005434_140005435delinsCT NCBI36
NG_021417.1:g.7120_7121delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252102.9:c.221_222delinsAG (NDUFA2) MANE Select ENSP00000252102.5:p.Glu74=
ENST00000252102.8:c.221_222delinsAG (NDUFA2) ENSP00000252102.4:p.Glu74=
ENST00000502960.1:n.529_530delinsAG (NDUFA2)
ENST00000510680.1:n.59+1590_59+1591delinsAG (NDUFA2)
ENST00000512088.1:c.*37_*38delinsAG (NDUFA2) ENSP00000427220.1:n.*37_*38delinsAG
NM_001185012.1:c.*37_*38delinsAG (NDUFA2) NP_001171941.1:n.*37_*38delinsAG
NM_002488.4:c.221_222delinsAG (NDUFA2) NP_002479.1:p.Glu74=
NR_033697.1:n.543_544delinsAG (NDUFA2)
XM_011537663.1:c.1219-1150_1219-1149delinsCT (TMCO6) XP_011535965.1:n.1219-1150_1219-1149delinsCT
XM_011537663.2:c.1219-1150_1219-1149delinsCT (TMCO6) XP_011535965.1:n.1219-1150_1219-1149delinsCT
NM_002488.5:c.221_222delinsAG (NDUFA2) MANE Select NP_002479.1:p.Glu74=
NM_001185012.2:c.*37_*38delinsAG (NDUFA2) NP_001171941.1:n.*37_*38delinsAG
NR_033697.2:n.388_389delinsAG (NDUFA2)