Canonical Allele Identifier: CA2577624165
Gene: ITGB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44886662_44886663del , CM000683.2:g.44886662_44886663del GRCh38
NC_000021.8:g.46306577_46306578del , CM000683.1:g.46306577_46306578del GRCh37
NC_000021.7:g.45131005_45131006del NCBI36
NG_007270.2:g.47177_47178del , LRG_76:g.47177_47178del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696946.1:n.1454+74_1454+75del
ENST00000302347.10:c.2319+74_2319+75del ENSP00000303242.6:n.2319+74_2319+75del
ENST00000652462.1:c.2247+74_2247+75del MANE Select ENSP00000498780.1:n.2247+74_2247+75del
ENST00000302347.9:c.2247+74_2247+75del ENSP00000303242.5:n.2247+74_2247+75del
ENST00000355153.8:c.2247+74_2247+75del ENSP00000347279.4:n.2247+74_2247+75del
ENST00000397850.6:c.2247+74_2247+75del ENSP00000380948.2:n.2247+74_2247+75del
ENST00000397852.5:c.2247+74_2247+75del ENSP00000380950.1:n.2247+74_2247+75del
ENST00000397854.7:c.2076+74_2076+75del ENSP00000380952.3:n.2076+74_2076+75del
ENST00000397857.5:c.2247+74_2247+75del ENSP00000380955.1:n.2247+74_2247+75del
ENST00000475170.5:n.1647+74_1647+75del
ENST00000479202.5:n.606+74_606+75del
ENST00000498666.5:n.4303+74_4303+75del
ENST00000523323.5:c.*2074+74_*2074+75del ENSP00000427732.1:n.*2074+74_*2074+75del
ENST00000610622.4:c.*938+74_*938+75del ENSP00000480700.1:n.*938+74_*938+75del
NM_000211.4:c.2247+74_2247+75del NP_000202.3:n.2247+74_2247+75del
NM_001127491.2:c.2247+74_2247+75del NP_001120963.2:n.2247+74_2247+75del
NM_001303238.1:c.2040+74_2040+75del NP_001290167.1:n.2040+74_2040+75del
XM_006724001.1:c.2040+74_2040+75del XP_006724064.1:n.2040+74_2040+75del
XM_006724001.2:c.2040+74_2040+75del XP_006724064.1:n.2040+74_2040+75del
NM_000211.5:c.2247+74_2247+75del MANE Select NP_000202.3:n.2247+74_2247+75del
NM_001127491.3:c.2247+74_2247+75del NP_001120963.2:n.2247+74_2247+75del
NM_001303238.2:c.2040+74_2040+75del NP_001290167.1:n.2040+74_2040+75del