Canonical Allele Identifier: CA3442565

Gene: NDUFA2 IK

Linked Data

• dbSNP Id: rs755904736
• ExAC: 5:140027133 T / C
• gnomAD v2: 5-140027133-T-C
• gnomAD v3: 5-140647548-T-C
• gnomAD v4: 5-140647548-T-C
• MyVariant Identifiers: chr5:g.140027133T>C (hg19) ; chr5:g.140647548T>C (hg38)

Genomic Alleles

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

Transcript Alleles

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