Canonical Allele Identifier: CA2654867011

Gene: ITGB2

Linked Data

• gnomAD v4: 21-44893434-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44893436del , CM000683.2:g.44893436del	GRCh38
NC_000021.8:g.46313351del , CM000683.1:g.46313351del	GRCh37
NC_000021.7:g.45137779del	NCBI36
NG_007270.2:g.40404del , LRG_76:g.40404del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.1265del	ENSP00000303242.6:p.Gly422ValfsTer16
ENST00000652462.1:c.1193del MANE Select	ENSP00000498780.1:p.Gly398ValfsTer16
ENST00000302347.9:c.1193del	ENSP00000303242.5:p.Gly398ValfsTer16
ENST00000355153.8:c.1193del	ENSP00000347279.4:p.Gly398ValfsTer16
ENST00000397850.6:c.1193del	ENSP00000380948.2:p.Gly398ValfsTer16
ENST00000397852.5:c.1193del	ENSP00000380950.1:p.Gly398ValfsTer16
ENST00000397854.7:c.1022del	ENSP00000380952.3:p.Gly341ValfsTer16
ENST00000397857.5:c.1193del	ENSP00000380955.1:p.Gly398ValfsTer16
ENST00000475170.5:n.593del
ENST00000498666.5:n.2762del
ENST00000523323.5:c.*1020del	ENSP00000427732.1:n.*1020del
ENST00000610622.4:c.1022del	ENSP00000480700.1:p.Gly341ValfsTer16
NM_000211.4:c.1193del	NP_000202.3:p.Gly398ValfsTer16
NM_001127491.2:c.1193del	NP_001120963.2:p.Gly398ValfsTer16
NM_001303238.1:c.986del	NP_001290167.1:p.Gly329ValfsTer16
XM_006724001.1:c.986del	XP_006724064.1:p.Gly329ValfsTer16
XM_006724001.2:c.986del	XP_006724064.1:p.Gly329ValfsTer16
NM_000211.5:c.1193del MANE Select	NP_000202.3:p.Gly398ValfsTer16
NM_001127491.3:c.1193del	NP_001120963.2:p.Gly398ValfsTer16
NM_001303238.2:c.986del	NP_001290167.1:p.Gly329ValfsTer16