Canonical Allele Identifier: CA321125063

Gene: U2AF1

Linked Data

• dbSNP Id: rs758423675
• gnomAD v4: 21-43094484-G-A
• MyVariant Identifiers: chr21:g.43094484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43094484G>A , CM000683.2:g.43094484G>A	GRCh38
NG_029455.1:g.18095C>T , LRG_615:g.18095C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291552.9:c.562C>T MANE Select	ENSP00000291552.4:p.Arg188Cys
ENST00000291552.8:c.562C>T	ENSP00000291552.4:p.Arg188Cys
ENST00000380276.6:c.562C>T	ENSP00000369629.2:p.Arg188Cys
ENST00000398137.5:c.343C>T	ENSP00000381205.1:p.Arg115Cys
ENST00000459639.5:c.343C>T	ENSP00000418705.1:p.Arg115Cys
ENST00000464750.5:c.*401C>T	ENSP00000420672.1:n.*401C>T
ENST00000471250.5:n.1369C>T
ENST00000475639.5:n.4387C>T
ENST00000478282.1:n.1816C>T
ENST00000486519.5:n.609C>T
NM_001025203.1:c.562C>T , LRG_615t1:c.562C>T	NP_001020374.1:p.Arg188Cys
NM_001025204.1:c.343C>T	NP_001020375.1:p.Arg115Cys
NM_006758.2:c.562C>T , LRG_615t2:c.562C>T	NP_006749.1:p.Arg188Cys
XM_011529743.1:c.463C>T	XP_011528045.1:p.Arg155Cys
XM_011529743.3:c.463C>T	XP_011528045.1:p.Arg155Cys
XM_017028468.2:c.463C>T	XP_016883957.1:p.Arg155Cys
XM_024452129.1:c.343C>T	XP_024307897.1:p.Arg115Cys
XM_024452130.1:c.343C>T	XP_024307898.1:p.Arg115Cys
XM_024452131.1:c.343C>T	XP_024307899.1:p.Arg115Cys
NM_001025204.2:c.343C>T	NP_001020375.1:p.Arg115Cys
NM_006758.3:c.562C>T MANE Select	NP_006749.1:p.Arg188Cys