Canonical Allele Identifier: CA322323

Gene: NDUFAF2

Linked Data

• ClinVar Variation Id: 214740
• ClinVar RCV Id: RCV000197862 ; RCV001157922 ; RCV001157923 ; RCV002515408
• dbSNP Id: rs775605330
• ExAC: 5:60368955 A / C
• gnomAD v2: 5-60368955-A-C
• gnomAD v3: 5-61073128-A-C
• gnomAD v4: 5-61073128-A-C
• MyVariant Identifiers: chr5:g.60368955A>C (hg19) ; chr5:g.61073128A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.61073128A>C , CM000667.2:g.61073128A>C	GRCh38
NC_000005.9:g.60368955A>C , CM000667.1:g.60368955A>C	GRCh37
NC_000005.8:g.60404712A>C	NCBI36
NG_008978.1:g.133000A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296597.10:c.131A>C MANE Select	ENSP00000296597.5:p.Gln44Pro
ENST00000677756.1:c.*147A>C	ENSP00000503642.1:n.*147A>C
ENST00000677932.1:c.131A>C	ENSP00000504750.1:p.Gln44Pro
ENST00000678452.1:c.177A>C	ENSP00000504248.1:p.Thr59=
ENST00000296597.9:c.131A>C	ENSP00000296597.5:p.Gln44Pro
ENST00000502658.1:c.52A>C
ENST00000511107.1:c.174-25864A>C	ENSP00000423377.1:n.174-25864A>C
ENST00000512623.1:n.169A>C
NM_174889.4:c.131A>C	NP_777549.1:p.Gln44Pro
NM_174889.5:c.131A>C MANE Select	NP_777549.1:p.Gln44Pro