Canonical Allele Identifier: CA128351949

Linked Data

dbSNP Id: rs755127827

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140647639G>A , CM000667.2:g.140647639G>A GRCh38
NC_000005.9:g.140027224G>A , CM000667.1:g.140027224G>A GRCh37
NC_000005.8:g.140007408G>A NCBI36
NG_021417.1:g.5147C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252102.8:c.-56C>T (NDUFA2) ENSP00000252102.4:n.-56C>T
ENST00000502960.1:n.133C>T (NDUFA2)
ENST00000512088.1:c.-56C>T (NDUFA2) ENSP00000427220.1:n.-56C>T
ENST00000513256.5:c.4+330G>A (IK) ENSP00000425564.1:n.4+330G>A
NM_001185012.1:c.-56C>T (NDUFA2) NP_001171941.1:n.-56C>T
NM_002488.4:c.-56C>T (NDUFA2) NP_002479.1:n.-56C>T
NR_033697.1:n.147C>T (NDUFA2)