Canonical Allele Identifier: CA410602999

Gene: U2AF1

Linked Data

• gnomAD v4: 21-43094481-G-C
• MyVariant Identifiers: chr21:g.43094481G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43094481G>C , CM000683.2:g.43094481G>C	GRCh38
NG_029455.1:g.18098C>G , LRG_615:g.18098C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291552.9:c.565C>G MANE Select	ENSP00000291552.4:p.Arg189Gly
ENST00000291552.8:c.565C>G	ENSP00000291552.4:p.Arg189Gly
ENST00000380276.6:c.565C>G	ENSP00000369629.2:p.Arg189Gly
ENST00000398137.5:c.346C>G	ENSP00000381205.1:p.Arg116Gly
ENST00000459639.5:c.346C>G	ENSP00000418705.1:p.Arg116Gly
ENST00000464750.5:c.*404C>G	ENSP00000420672.1:n.*404C>G
ENST00000471250.5:n.1372C>G
ENST00000475639.5:n.4390C>G
ENST00000478282.1:n.1819C>G
ENST00000486519.5:n.612C>G
NM_001025203.1:c.565C>G , LRG_615t1:c.565C>G	NP_001020374.1:p.Arg189Gly
NM_001025204.1:c.346C>G	NP_001020375.1:p.Arg116Gly
NM_006758.2:c.565C>G , LRG_615t2:c.565C>G	NP_006749.1:p.Arg189Gly
XM_011529743.1:c.466C>G	XP_011528045.1:p.Arg156Gly
XM_011529743.3:c.466C>G	XP_011528045.1:p.Arg156Gly
XM_017028468.2:c.466C>G	XP_016883957.1:p.Arg156Gly
XM_024452129.1:c.346C>G	XP_024307897.1:p.Arg116Gly
XM_024452130.1:c.346C>G	XP_024307898.1:p.Arg116Gly
XM_024452131.1:c.346C>G	XP_024307899.1:p.Arg116Gly
NM_001025204.2:c.346C>G	NP_001020375.1:p.Arg116Gly
NM_006758.3:c.565C>G MANE Select	NP_006749.1:p.Arg189Gly