Canonical Allele Identifier: CA16043088

Gene: FA2H

Linked Data

• ClinVar Variation Id: 372860
• ClinVar RCV Id: RCV001336096 ; RCV001337611
• dbSNP Id: rs1057518032
• gnomAD v2: 16-74808515-C-T
• gnomAD v4: 16-74774617-C-T
• MyVariant Identifiers: chr16:g.74808515C>T (hg19) ; chr16:g.74774617C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774617C>T , CM000678.2:g.74774617C>T	GRCh38
NC_000016.9:g.74808515C>T , CM000678.1:g.74808515C>T	GRCh37
NC_000016.8:g.73366016C>T	NCBI36
NG_017070.1:g.5215G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000219368.8:c.139G>A MANE Select	ENSP00000219368.3:p.Glu47Lys
ENST00000219368.7:c.139G>A	ENSP00000219368.3:p.Glu47Lys
ENST00000567683.5:c.139G>A	ENSP00000455126.1:p.Glu47Lys
NM_024306.4:c.139G>A	NP_077282.3:p.Glu47Lys
XM_011523317.1:c.139G>A	XP_011521619.1:p.Glu47Lys
XM_011523318.1:c.139G>A	XP_011521620.1:p.Glu47Lys
XM_011523317.3:c.139G>A	XP_011521619.1:p.Glu47Lys
NM_024306.5:c.139G>A MANE Select	NP_077282.3:p.Glu47Lys