Canonical Allele Identifier: CA3278074
Gene: NDUFAF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419231
ClinVar RCV Id: RCV000485122 RCV000674200 RCV000590864 RCV000780529 RCV001335554
dbSNP Id: rs199754807
ExAC: 5:60241196 C / G
gnomAD v2: 5-60241196-C-G
gnomAD v3: 5-60945369-C-G
gnomAD v4: 5-60945369-C-G
MyVariant Identifiers: chr5:g.60241196C>G (hg19) chr5:g.60945369C>G (hg38)
PubMed: PMID:19384974
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60945369C>G , CM000667.2:g.60945369C>G GRCh38
NC_000005.9:g.60241196C>G , CM000667.1:g.60241196C>G GRCh37
NC_000005.8:g.60276953C>G NCBI36
NG_008978.1:g.5241C>G
NG_009289.1:g.4710G>C , LRG_466:g.4710G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296597.10:c.114C>G MANE Select ENSP00000296597.5:p.Tyr38Ter
ENST00000677756.1:c.114C>G ENSP00000503642.1:p.Tyr38Ter
ENST00000677932.1:c.114C>G ENSP00000504750.1:p.Tyr38Ter
ENST00000678452.1:c.114C>G ENSP00000504248.1:p.Tyr38Ter
ENST00000296597.9:c.114C>G ENSP00000296597.5:p.Tyr38Ter
ENST00000502658.1:c.35C>G
ENST00000511107.1:c.114C>G ENSP00000423377.1:p.Tyr38Ter
NM_174889.4:c.114C>G NP_777549.1:p.Tyr38Ter
NM_174889.5:c.114C>G MANE Select NP_777549.1:p.Tyr38Ter
Search 100 bp 5'
Search 100 bp 3'