Canonical Allele Identifier: CA2818060534
Gene: ITGB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44893054_44893060del , CM000683.2:g.44893054_44893060del GRCh38
NC_000021.8:g.46312969_46312975del , CM000683.1:g.46312969_46312975del GRCh37
NC_000021.7:g.45137397_45137403del NCBI36
NG_007270.2:g.40779_40785del , LRG_76:g.40779_40785del

Transcript Alleles

HGVS Amino-acid Change
ENST00000302347.10:c.1296+344_1296+350del ENSP00000303242.6:n.1296+344_1296+350del
ENST00000652462.1:c.1224+344_1224+350del MANE Select ENSP00000498780.1:n.1224+344_1224+350del
ENST00000302347.9:c.1224+344_1224+350del ENSP00000303242.5:n.1224+344_1224+350del
ENST00000355153.8:c.1224+344_1224+350del ENSP00000347279.4:n.1224+344_1224+350del
ENST00000397850.6:c.1224+344_1224+350del ENSP00000380948.2:n.1224+344_1224+350del
ENST00000397852.5:c.1224+344_1224+350del ENSP00000380950.1:n.1224+344_1224+350del
ENST00000397854.7:c.1053+344_1053+350del ENSP00000380952.3:n.1053+344_1053+350del
ENST00000397857.5:c.1224+344_1224+350del ENSP00000380955.1:n.1224+344_1224+350del
ENST00000475170.5:n.624+344_624+350del
ENST00000498666.5:n.3137_3143del
ENST00000523323.5:c.*1051+344_*1051+350del ENSP00000427732.1:n.*1051+344_*1051+350del
ENST00000610622.4:c.1053+344_1053+350del ENSP00000480700.1:n.1053+344_1053+350del
NM_000211.4:c.1224+344_1224+350del NP_000202.3:n.1224+344_1224+350del
NM_001127491.2:c.1224+344_1224+350del NP_001120963.2:n.1224+344_1224+350del
NM_001303238.1:c.1017+344_1017+350del NP_001290167.1:n.1017+344_1017+350del
XM_006724001.1:c.1017+344_1017+350del XP_006724064.1:n.1017+344_1017+350del
XM_006724001.2:c.1017+344_1017+350del XP_006724064.1:n.1017+344_1017+350del
NM_000211.5:c.1224+344_1224+350del MANE Select NP_000202.3:n.1224+344_1224+350del
NM_001127491.3:c.1224+344_1224+350del NP_001120963.2:n.1224+344_1224+350del
NM_001303238.2:c.1017+344_1017+350del NP_001290167.1:n.1017+344_1017+350del