Canonical Allele Identifier: CA623582332

Gene: FA2H

Linked Data

• dbSNP Id: rs1567654101
• gnomAD v2: 16-74808359-GT-G
• gnomAD v4: 16-74774461-GT-G
• MyVariant Identifiers: chr16:g.74808360del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774462del , CM000678.2:g.74774462del	GRCh38
NC_000016.9:g.74808360del , CM000678.1:g.74808360del	GRCh37
NC_000016.8:g.73365861del	NCBI36
NG_017070.1:g.5370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.270+24del MANE Select	ENSP00000219368.3:n.270+24del
ENST00000219368.7:c.270+24del	ENSP00000219368.3:n.270+24del
ENST00000567683.5:c.270+24del	ENSP00000455126.1:n.270+24del
NM_024306.4:c.270+24del	NP_077282.3:n.270+24del
XM_011523317.1:c.270+24del	XP_011521619.1:n.270+24del
XM_011523318.1:c.270+24del	XP_011521620.1:n.270+24del
XM_011523317.3:c.270+24del	XP_011521619.1:n.270+24del
NM_024306.5:c.270+24del MANE Select	NP_077282.3:n.270+24del