Canonical Allele Identifier: CA410602996
Gene: U2AF1 HGNC NCBI

Linked Data

dbSNP Id: rs2146452465
MyVariant Identifiers: chr21:g.43094480C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43094480C>T , CM000683.2:g.43094480C>T GRCh38
NG_029455.1:g.18099G>A , LRG_615:g.18099G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291552.9:c.566G>A MANE Select ENSP00000291552.4:p.Arg189His
ENST00000291552.8:c.566G>A ENSP00000291552.4:p.Arg189His
ENST00000380276.6:c.566G>A ENSP00000369629.2:p.Arg189His
ENST00000398137.5:c.347G>A ENSP00000381205.1:p.Arg116His
ENST00000459639.5:c.347G>A ENSP00000418705.1:p.Arg116His
ENST00000464750.5:c.*405G>A ENSP00000420672.1:n.*405G>A
ENST00000471250.5:n.1373G>A
ENST00000475639.5:n.4391G>A
ENST00000478282.1:n.1820G>A
ENST00000486519.5:n.613G>A
NM_001025203.1:c.566G>A , LRG_615t1:c.566G>A NP_001020374.1:p.Arg189His
NM_001025204.1:c.347G>A NP_001020375.1:p.Arg116His
NM_006758.2:c.566G>A , LRG_615t2:c.566G>A NP_006749.1:p.Arg189His
XM_011529743.1:c.467G>A XP_011528045.1:p.Arg156His
XM_011529743.3:c.467G>A XP_011528045.1:p.Arg156His
XM_017028468.2:c.467G>A XP_016883957.1:p.Arg156His
XM_024452129.1:c.347G>A XP_024307897.1:p.Arg116His
XM_024452130.1:c.347G>A XP_024307898.1:p.Arg116His
XM_024452131.1:c.347G>A XP_024307899.1:p.Arg116His
NM_001025204.2:c.347G>A NP_001020375.1:p.Arg116His
NM_006758.3:c.566G>A MANE Select NP_006749.1:p.Arg189His