Canonical Allele Identifier: CA2654866849

Gene: ITGB2

Linked Data

• gnomAD v4: 21-44893308-ACCCCTCAGTGTGCTGGGATGGGGACCCTGGCTCCTTCTGGCTGTCCCCAGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44893317_44893368del , CM000683.2:g.44893317_44893368del	GRCh38
NC_000021.8:g.46313232_46313283del , CM000683.1:g.46313232_46313283del	GRCh37
NC_000021.7:g.45137660_45137711del	NCBI36
NG_007270.2:g.40479_40530del , LRG_76:g.40479_40530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.1296+44_1296+95del	ENSP00000303242.6:n.1296+44_1296+95del
ENST00000652462.1:c.1224+44_1224+95del MANE Select	ENSP00000498780.1:n.1224+44_1224+95del
ENST00000302347.9:c.1224+44_1224+95del	ENSP00000303242.5:n.1224+44_1224+95del
ENST00000355153.8:c.1224+44_1224+95del	ENSP00000347279.4:n.1224+44_1224+95del
ENST00000397850.6:c.1224+44_1224+95del	ENSP00000380948.2:n.1224+44_1224+95del
ENST00000397852.5:c.1224+44_1224+95del	ENSP00000380950.1:n.1224+44_1224+95del
ENST00000397854.7:c.1053+44_1053+95del	ENSP00000380952.3:n.1053+44_1053+95del
ENST00000397857.5:c.1224+44_1224+95del	ENSP00000380955.1:n.1224+44_1224+95del
ENST00000475170.5:n.624+44_624+95del
ENST00000498666.5:n.2837_2888del
ENST00000523323.5:c.*1051+44_*1051+95del	ENSP00000427732.1:n.*1051+44_*1051+95del
ENST00000610622.4:c.1053+44_1053+95del	ENSP00000480700.1:n.1053+44_1053+95del
NM_000211.4:c.1224+44_1224+95del	NP_000202.3:n.1224+44_1224+95del
NM_001127491.2:c.1224+44_1224+95del	NP_001120963.2:n.1224+44_1224+95del
NM_001303238.1:c.1017+44_1017+95del	NP_001290167.1:n.1017+44_1017+95del
XM_006724001.1:c.1017+44_1017+95del	XP_006724064.1:n.1017+44_1017+95del
XM_006724001.2:c.1017+44_1017+95del	XP_006724064.1:n.1017+44_1017+95del
NM_000211.5:c.1224+44_1224+95del MANE Select	NP_000202.3:n.1224+44_1224+95del
NM_001127491.3:c.1224+44_1224+95del	NP_001120963.2:n.1224+44_1224+95del
NM_001303238.2:c.1017+44_1017+95del	NP_001290167.1:n.1017+44_1017+95del