Canonical Allele Identifier: CA410603001

Gene: U2AF1

Linked Data

• dbSNP Id: rs2146452482
• gnomAD v4: 21-43094483-C-T
• COSMIC: COSM1231488 ; COSM1231489
• MyVariant Identifiers: chr21:g.43094483C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43094483C>T , CM000683.2:g.43094483C>T	GRCh38
NG_029455.1:g.18096G>A , LRG_615:g.18096G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291552.9:c.563G>A MANE Select	ENSP00000291552.4:p.Arg188His
ENST00000291552.8:c.563G>A	ENSP00000291552.4:p.Arg188His
ENST00000380276.6:c.563G>A	ENSP00000369629.2:p.Arg188His
ENST00000398137.5:c.344G>A	ENSP00000381205.1:p.Arg115His
ENST00000459639.5:c.344G>A	ENSP00000418705.1:p.Arg115His
ENST00000464750.5:c.*402G>A	ENSP00000420672.1:n.*402G>A
ENST00000471250.5:n.1370G>A
ENST00000475639.5:n.4388G>A
ENST00000478282.1:n.1817G>A
ENST00000486519.5:n.610G>A
NM_001025203.1:c.563G>A , LRG_615t1:c.563G>A	NP_001020374.1:p.Arg188His
NM_001025204.1:c.344G>A	NP_001020375.1:p.Arg115His
NM_006758.2:c.563G>A , LRG_615t2:c.563G>A	NP_006749.1:p.Arg188His
XM_011529743.1:c.464G>A	XP_011528045.1:p.Arg155His
XM_011529743.3:c.464G>A	XP_011528045.1:p.Arg155His
XM_017028468.2:c.464G>A	XP_016883957.1:p.Arg155His
XM_024452129.1:c.344G>A	XP_024307897.1:p.Arg115His
XM_024452130.1:c.344G>A	XP_024307898.1:p.Arg115His
XM_024452131.1:c.344G>A	XP_024307899.1:p.Arg115His
NM_001025204.2:c.344G>A	NP_001020375.1:p.Arg115His
NM_006758.3:c.563G>A MANE Select	NP_006749.1:p.Arg188His