Canonical Allele Identifier: CA410603005

Gene: U2AF1

Linked Data

• dbSNP Id: rs2146452509
• gnomAD v4: 21-43094486-C-T
• MyVariant Identifiers: chr21:g.43094486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43094486C>T , CM000683.2:g.43094486C>T	GRCh38
NG_029455.1:g.18093G>A , LRG_615:g.18093G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000291552.9:c.560G>A MANE Select	ENSP00000291552.4:p.Gly187Asp
ENST00000291552.8:c.560G>A	ENSP00000291552.4:p.Gly187Asp
ENST00000380276.6:c.560G>A	ENSP00000369629.2:p.Gly187Asp
ENST00000398137.5:c.341G>A	ENSP00000381205.1:p.Gly114Asp
ENST00000459639.5:c.341G>A	ENSP00000418705.1:p.Gly114Asp
ENST00000464750.5:c.*399G>A	ENSP00000420672.1:n.*399G>A
ENST00000471250.5:n.1367G>A
ENST00000475639.5:n.4385G>A
ENST00000478282.1:n.1814G>A
ENST00000486519.5:n.607G>A
NM_001025203.1:c.560G>A , LRG_615t1:c.560G>A	NP_001020374.1:p.Gly187Asp
NM_001025204.1:c.341G>A	NP_001020375.1:p.Gly114Asp
NM_006758.2:c.560G>A , LRG_615t2:c.560G>A	NP_006749.1:p.Gly187Asp
XM_011529743.1:c.461G>A	XP_011528045.1:p.Gly154Asp
XM_011529743.3:c.461G>A	XP_011528045.1:p.Gly154Asp
XM_017028468.2:c.461G>A	XP_016883957.1:p.Gly154Asp
XM_024452129.1:c.341G>A	XP_024307897.1:p.Gly114Asp
XM_024452130.1:c.341G>A	XP_024307898.1:p.Gly114Asp
XM_024452131.1:c.341G>A	XP_024307899.1:p.Gly114Asp
NM_001025204.2:c.341G>A	NP_001020375.1:p.Gly114Asp
NM_006758.3:c.560G>A MANE Select	NP_006749.1:p.Gly187Asp