Canonical Allele Identifier: CA361216800

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140647544G>T , CM000667.2:g.140647544G>T GRCh38
NC_000005.9:g.140027129G>T , CM000667.1:g.140027129G>T GRCh37
NC_000005.8:g.140007313G>T NCBI36
NG_021417.1:g.5242C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252102.9:c.40C>A (NDUFA2) MANE Select ENSP00000252102.5:p.Leu14Met
ENST00000252102.8:c.40C>A (NDUFA2) ENSP00000252102.4:p.Leu14Met
ENST00000502960.1:n.228C>A (NDUFA2)
ENST00000512088.1:c.40C>A (NDUFA2) ENSP00000427220.1:p.Leu14Met
ENST00000513256.5:c.4+235G>T (IK) ENSP00000425564.1:n.4+235G>T
NM_001185012.1:c.40C>A (NDUFA2) NP_001171941.1:p.Leu14Met
NM_002488.4:c.40C>A (NDUFA2) NP_002479.1:p.Leu14Met
NR_033697.1:n.242C>A (NDUFA2)
NM_002488.5:c.40C>A (NDUFA2) MANE Select NP_002479.1:p.Leu14Met
NM_001185012.2:c.40C>A (NDUFA2) NP_001171941.1:p.Leu14Met
NR_033697.2:n.87C>A (NDUFA2)