Canonical Allele Identifier: CA3278128
Gene: NDUFAF2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.61073193G>C
GRCh37 chr5:g.60369020G>C
Revel Score:
ENST00000296597 (MANE Select) 0.098
gnomAD v2:
5:60369020 G / C
gnomAD v3:
5:61073193 G / C
gnomAD v4:
chr5-61073193-G-C
Joint Max Group AF 0.00025924 (EAS)
Genomes Max Group AF 0.00037903 (EAS)
Exomes Max Group AF 0.00019349 (EAS)
ClinVar Allele:
304695
ClinVar RCV:
RCV000298358
RCV000336991
RCV003243110
ClinVar Variation:
354035
dbSNP:
769579395
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'