Canonical Allele Identifier: CA446629140

Linked Data

MyVariant Identifiers: chr5:g.140027133T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140647548T>G , CM000667.2:g.140647548T>G GRCh38
NC_000005.9:g.140027133T>G , CM000667.1:g.140027133T>G GRCh37
NC_000005.8:g.140007317T>G NCBI36
NG_021417.1:g.5238A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252102.9:c.36A>C (NDUFA2) MANE Select ENSP00000252102.5:p.Ala12=
ENST00000252102.8:c.36A>C (NDUFA2) ENSP00000252102.4:p.Ala12=
ENST00000502960.1:n.224A>C (NDUFA2)
ENST00000512088.1:c.36A>C (NDUFA2) ENSP00000427220.1:p.Ala12=
ENST00000513256.5:c.4+239T>G (IK) ENSP00000425564.1:n.4+239T>G
NM_001185012.1:c.36A>C (NDUFA2) NP_001171941.1:p.Ala12=
NM_002488.4:c.36A>C (NDUFA2) NP_002479.1:p.Ala12=
NR_033697.1:n.238A>C (NDUFA2)
NM_002488.5:c.36A>C (NDUFA2) MANE Select NP_002479.1:p.Ala12=
NM_001185012.2:c.36A>C (NDUFA2) NP_001171941.1:p.Ala12=
NR_033697.2:n.83A>C (NDUFA2)