Canonical Allele Identifier: CA3278200

Gene: NDUFAF2

Linked Data

• ClinVar Variation Id: 493411
• ClinVar RCV Id: RCV000585479 ; RCV000602804 ; RCV001152463 ; RCV001153733
• dbSNP Id: rs9885480
• ExAC: 5:60448723 G / A
• gnomAD v2: 5-60448723-G-A
• gnomAD v3: 5-61152896-G-A
• gnomAD v4: 5-61152896-G-A
• MyVariant Identifiers: chr5:g.60448723G>A (hg19) ; chr5:g.61152896G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.61152896G>A , CM000667.2:g.61152896G>A	GRCh38
NC_000005.9:g.60448723G>A , CM000667.1:g.60448723G>A	GRCh37
NC_000005.8:g.60484480G>A	NCBI36
NG_008978.1:g.212768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296597.10:c.451G>A MANE Select	ENSP00000296597.5:p.Gly151Ser
ENST00000677756.1:c.*467G>A	ENSP00000503642.1:n.*467G>A
ENST00000678452.1:c.*281G>A	ENSP00000504248.1:n.*281G>A
ENST00000296597.9:c.451G>A	ENSP00000296597.5:p.Gly151Ser
ENST00000502658.1:c.331G>A
ENST00000511107.1:c.*224G>A	ENSP00000423377.1:n.*224G>A
ENST00000512623.1:n.576G>A
NM_174889.4:c.451G>A	NP_777549.1:p.Gly151Ser
NM_174889.5:c.451G>A MANE Select	NP_777549.1:p.Gly151Ser