Canonical Allele Identifier: CA3278128

Gene: NDUFAF2

Linked Data

• ClinVar Variation Id: 354035
• ClinVar RCV Id: RCV000298358 ; RCV000336991 ; RCV003243110
• dbSNP Id: rs769579395
• ExAC: 5:60369020 G / C
• gnomAD v2: 5-60369020-G-C
• gnomAD v3: 5-61073193-G-C
• gnomAD v4: 5-61073193-G-C
• MyVariant Identifiers: chr5:g.60369020G>C (hg19) ; chr5:g.61073193G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.61073193G>C , CM000667.2:g.61073193G>C	GRCh38
NC_000005.9:g.60369020G>C , CM000667.1:g.60369020G>C	GRCh37
NC_000005.8:g.60404777G>C	NCBI36
NG_008978.1:g.133065G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296597.10:c.196G>C MANE Select	ENSP00000296597.5:p.Asp66His
ENST00000677756.1:c.*212G>C	ENSP00000503642.1:n.*212G>C
ENST00000677932.1:c.196G>C	ENSP00000504750.1:p.Asp66His
ENST00000678452.1:c.*26G>C	ENSP00000504248.1:n.*26G>C
ENST00000296597.9:c.196G>C	ENSP00000296597.5:p.Asp66His
ENST00000502658.1:c.117G>C
ENST00000511107.1:c.174-25799G>C	ENSP00000423377.1:n.174-25799G>C
ENST00000512623.1:n.234G>C
NM_174889.4:c.196G>C	NP_777549.1:p.Asp66His
NM_174889.5:c.196G>C MANE Select	NP_777549.1:p.Asp66His