Canonical Allele Identifier: CA3442589

Gene: NDUFA2 IK

Linked Data

• ClinVar Variation Id: 351226
• ClinVar RCV Id: RCV001672651
• dbSNP Id: rs778593
• ExAC: 5:140027216 T / C
• gnomAD v2: 5-140027216-T-C
• gnomAD v3: 5-140647631-T-C
• gnomAD v4: 5-140647631-T-C
• MyVariant Identifiers: chr5:g.140027216T>C (hg19) ; chr5:g.140647631T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647631T>C , CM000667.2:g.140647631T>C	GRCh38
NC_000005.9:g.140027216T>C , CM000667.1:g.140027216T>C	GRCh37
NC_000005.8:g.140007400T>C	NCBI36
NG_021417.1:g.5155A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252102.8:c.-48A>G (NDUFA2)	ENSP00000252102.4:n.-48A>G
ENST00000502960.1:n.141A>G (NDUFA2)
ENST00000512088.1:c.-48A>G (NDUFA2)	ENSP00000427220.1:n.-48A>G
ENST00000513256.5:c.4+322T>C (IK)	ENSP00000425564.1:n.4+322T>C
NM_001185012.1:c.-48A>G (NDUFA2)	NP_001171941.1:n.-48A>G
NM_002488.4:c.-48A>G (NDUFA2)	NP_002479.1:n.-48A>G
NR_033697.1:n.155A>G (NDUFA2)