Canonical Allele Identifier: CA361216803

Gene: NDUFA2 IK

Linked Data

• dbSNP Id: rs752340193
• gnomAD v2: 5-140027130-C-G
• gnomAD v4: 5-140647545-C-G
• MyVariant Identifiers: chr5:g.140027130C>G (hg19) ; chr5:g.140647545C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647545C>G , CM000667.2:g.140647545C>G	GRCh38
NC_000005.9:g.140027130C>G , CM000667.1:g.140027130C>G	GRCh37
NC_000005.8:g.140007314C>G	NCBI36
NG_021417.1:g.5241G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.39G>C (NDUFA2) MANE Select	ENSP00000252102.5:p.Lys13Asn
ENST00000252102.8:c.39G>C (NDUFA2)	ENSP00000252102.4:p.Lys13Asn
ENST00000502960.1:n.227G>C (NDUFA2)
ENST00000512088.1:c.39G>C (NDUFA2)	ENSP00000427220.1:p.Lys13Asn
ENST00000513256.5:c.4+236C>G (IK)	ENSP00000425564.1:n.4+236C>G
NM_001185012.1:c.39G>C (NDUFA2)	NP_001171941.1:p.Lys13Asn
NM_002488.4:c.39G>C (NDUFA2)	NP_002479.1:p.Lys13Asn
NR_033697.1:n.241G>C (NDUFA2)
NM_002488.5:c.39G>C (NDUFA2) MANE Select	NP_002479.1:p.Lys13Asn
NM_001185012.2:c.39G>C (NDUFA2)	NP_001171941.1:p.Lys13Asn
NR_033697.2:n.86G>C (NDUFA2)