Canonical Allele Identifier: CA410602989
Gene: U2AF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43094477C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43094477C>G , CM000683.2:g.43094477C>G GRCh38
NG_029455.1:g.18102G>C , LRG_615:g.18102G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291552.9:c.569G>C MANE Select ENSP00000291552.4:p.Arg190Pro
ENST00000291552.8:c.569G>C ENSP00000291552.4:p.Arg190Pro
ENST00000380276.6:c.569G>C ENSP00000369629.2:p.Arg190Pro
ENST00000398137.5:c.350G>C ENSP00000381205.1:p.Arg117Pro
ENST00000459639.5:c.350G>C ENSP00000418705.1:p.Arg117Pro
ENST00000464750.5:c.*408G>C ENSP00000420672.1:n.*408G>C
ENST00000471250.5:n.1376G>C
ENST00000475639.5:n.4394G>C
ENST00000478282.1:n.1823G>C
ENST00000486519.5:n.616G>C
NM_001025203.1:c.569G>C , LRG_615t1:c.569G>C NP_001020374.1:p.Arg190Pro
NM_001025204.1:c.350G>C NP_001020375.1:p.Arg117Pro
NM_006758.2:c.569G>C , LRG_615t2:c.569G>C NP_006749.1:p.Arg190Pro
XM_011529743.1:c.470G>C XP_011528045.1:p.Arg157Pro
XM_011529743.3:c.470G>C XP_011528045.1:p.Arg157Pro
XM_017028468.2:c.470G>C XP_016883957.1:p.Arg157Pro
XM_024452129.1:c.350G>C XP_024307897.1:p.Arg117Pro
XM_024452130.1:c.350G>C XP_024307898.1:p.Arg117Pro
XM_024452131.1:c.350G>C XP_024307899.1:p.Arg117Pro
NM_001025204.2:c.350G>C NP_001020375.1:p.Arg117Pro
NM_006758.3:c.569G>C MANE Select NP_006749.1:p.Arg190Pro