Canonical Allele Identifier: CA2675613204

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140647604C>G , CM000667.2:g.140647604C>G GRCh38
NC_000005.9:g.140027189C>G , CM000667.1:g.140027189C>G GRCh37
NC_000005.8:g.140007373C>G NCBI36
NG_021417.1:g.5182G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252102.9:c.-21G>C (NDUFA2) MANE Select ENSP00000252102.5:n.-21G>C
ENST00000252102.8:c.-21G>C (NDUFA2) ENSP00000252102.4:n.-21G>C
ENST00000502960.1:n.168G>C (NDUFA2)
ENST00000512088.1:c.-21G>C (NDUFA2) ENSP00000427220.1:n.-21G>C
ENST00000513256.5:c.4+295C>G (IK) ENSP00000425564.1:n.4+295C>G
NM_001185012.1:c.-21G>C (NDUFA2) NP_001171941.1:n.-21G>C
NM_002488.4:c.-21G>C (NDUFA2) NP_002479.1:n.-21G>C
NR_033697.1:n.182G>C (NDUFA2)
NM_002488.5:c.-21G>C (NDUFA2) MANE Select NP_002479.1:n.-21G>C
NM_001185012.2:c.-21G>C (NDUFA2) NP_001171941.1:n.-21G>C
NR_033697.2:n.27G>C (NDUFA2)