Canonical Allele Identifier: CA16602492
Gene: U2AF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 376023
ClinVar RCV Id: RCV000444682
dbSNP Id: rs371246226
MyVariant Identifiers: chr21:g.43094667T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43094667T>C , CM000683.2:g.43094667T>C GRCh38
NG_029455.1:g.17912A>G , LRG_615:g.17912A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000291552.9:c.470A>G MANE Select ENSP00000291552.4:p.Gln157Arg
ENST00000291552.8:c.470A>G ENSP00000291552.4:p.Gln157Arg
ENST00000380276.6:c.470A>G ENSP00000369629.2:p.Gln157Arg
ENST00000398137.5:c.251A>G ENSP00000381205.1:p.Gln84Arg
ENST00000459639.5:c.251A>G ENSP00000418705.1:p.Gln84Arg
ENST00000464750.5:c.*309A>G ENSP00000420672.1:p.=
ENST00000471250.5:n.1277A>G
ENST00000475639.5:n.4295A>G
ENST00000478282.1:n.1724A>G
ENST00000486519.5:n.517A>G
NM_001025203.1:c.470A>G , LRG_615t1:c.470A>G NP_001020374.1:p.Gln157Arg
NM_001025204.1:c.251A>G NP_001020375.1:p.Gln84Arg
NM_006758.2:c.470A>G , LRG_615t2:c.470A>G NP_006749.1:p.Gln157Arg
XM_011529743.1:c.371A>G XP_011528045.1:p.Gln124Arg
XM_011529743.3:c.371A>G XP_011528045.1:p.Gln124Arg
XM_017028468.2:c.371A>G XP_016883957.1:p.Gln124Arg
XM_024452129.1:c.251A>G XP_024307897.1:p.Gln84Arg
XM_024452130.1:c.251A>G XP_024307898.1:p.Gln84Arg
XM_024452131.1:c.251A>G XP_024307899.1:p.Gln84Arg
NM_001025204.2:c.251A>G NP_001020375.1:p.Gln84Arg
NM_006758.3:c.470A>G MANE Select NP_006749.1:p.Gln157Arg