Canonical Allele Identifier: CA2818060186
Gene: ITGB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44886593_44886594insTCTACACCTCCCTTCCAGCCATCTACACCTCTTAT , CM000683.2:g.44886593_44886594insTCTACACCTCCCTTCCAGCCATCTACACCTCTTAT GRCh38
NC_000021.8:g.46306508_46306509insTCTACACCTCCCTTCCAGCCATCTACACCTCTTAT , CM000683.1:g.46306508_46306509insTCTACACCTCCCTTCCAGCCATCTACACCTCTTAT GRCh37
NC_000021.7:g.45130936_45130937insTCTACACCTCCCTTCCAGCCATCTACACCTCTTAT NCBI36
NG_007270.2:g.47245_47246insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA , LRG_76:g.47245_47246insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000696946.1:n.1454+142_1454+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA
ENST00000302347.10:c.2319+142_2319+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA ENSP00000303242.6:n.2319+142_2319+143insATAAGAGGTGTAGATGGCTGG...
ENST00000652462.1:c.2247+142_2247+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA MANE Select ENSP00000498780.1:n.2247+142_2247+143insATAAGAGGTGTAGATGGCTGG...
ENST00000302347.9:c.2247+142_2247+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA ENSP00000303242.5:n.2247+142_2247+143insATAAGAGGTGTAGATGGCTGG...
ENST00000355153.8:c.2247+142_2247+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA ENSP00000347279.4:n.2247+142_2247+143insATAAGAGGTGTAGATGGCTGG...
ENST00000397850.6:c.2247+142_2247+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA ENSP00000380948.2:n.2247+142_2247+143insATAAGAGGTGTAGATGGCTGG...
ENST00000397852.5:c.2247+142_2247+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA ENSP00000380950.1:n.2247+142_2247+143insATAAGAGGTGTAGATGGCTGG...
ENST00000397854.7:c.2076+142_2076+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA ENSP00000380952.3:n.2076+142_2076+143insATAAGAGGTGTAGATGGCTGG...
ENST00000397857.5:c.2247+142_2247+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA ENSP00000380955.1:n.2247+142_2247+143insATAAGAGGTGTAGATGGCTGG...
ENST00000475170.5:n.1647+142_1647+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA
ENST00000479202.5:n.606+142_606+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA
ENST00000498666.5:n.4303+142_4303+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA
ENST00000523323.5:c.*2074+142_*2074+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA ENSP00000427732.1:n.*2074+142_*2074+143insATAAGAGGTGTAGATGGCT...
ENST00000610622.4:c.*938+142_*938+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA ENSP00000480700.1:n.*938+142_*938+143insATAAGAGGTGTAGATGGCTGG...
NM_000211.4:c.2247+142_2247+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA NP_000202.3:n.2247+142_2247+143insATAAGAGGTGTAGATGGCTGGAAGGGA...
NM_001127491.2:c.2247+142_2247+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA NP_001120963.2:n.2247+142_2247+143insATAAGAGGTGTAGATGGCTGGAAG...
NM_001303238.1:c.2040+142_2040+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA NP_001290167.1:n.2040+142_2040+143insATAAGAGGTGTAGATGGCTGGAAG...
XM_006724001.1:c.2040+142_2040+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA XP_006724064.1:n.2040+142_2040+143insATAAGAGGTGTAGATGGCTGGAAG...
XM_006724001.2:c.2040+142_2040+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA XP_006724064.1:n.2040+142_2040+143insATAAGAGGTGTAGATGGCTGGAAG...
NM_000211.5:c.2247+142_2247+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA MANE Select NP_000202.3:n.2247+142_2247+143insATAAGAGGTGTAGATGGCTGGAAGGGA...
NM_001127491.3:c.2247+142_2247+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA NP_001120963.2:n.2247+142_2247+143insATAAGAGGTGTAGATGGCTGGAAG...
NM_001303238.2:c.2040+142_2040+143insATAAGAGGTGTAGATGGCTGGAAGGGAGGTGTAGA NP_001290167.1:n.2040+142_2040+143insATAAGAGGTGTAGATGGCTGGAAG...