Canonical Allele Identifier: CA2573157713

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 1365830
• ClinVar RCV Id: RCV001942806
• dbSNP Id: rs2146511363

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44894998del , CM000683.2:g.44894998del	GRCh38
NC_000021.8:g.46314913del , CM000683.1:g.46314913del	GRCh37
NC_000021.7:g.45139341del	NCBI36
NG_007270.2:g.38842del , LRG_76:g.38842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.1129del	ENSP00000303242.6:p.Val377SerfsTer26
ENST00000652462.1:c.1057del MANE Select	ENSP00000498780.1:p.Val353SerfsTer26
ENST00000302347.9:c.1057del	ENSP00000303242.5:p.Val353SerfsTer26
ENST00000355153.8:c.1057del	ENSP00000347279.4:p.Val353SerfsTer26
ENST00000397850.6:c.1057del	ENSP00000380948.2:p.Val353SerfsTer26
ENST00000397852.5:c.1057del	ENSP00000380950.1:p.Val353SerfsTer26
ENST00000397854.7:c.886del	ENSP00000380952.3:p.Val296SerfsTer26
ENST00000397857.5:c.1057del	ENSP00000380955.1:p.Val353SerfsTer26
ENST00000498666.5:n.1200del
ENST00000523323.5:c.*884del	ENSP00000427732.1:n.*884del
ENST00000610622.4:c.886del	ENSP00000480700.1:p.Val296SerfsTer26
NM_000211.4:c.1057del	NP_000202.3:p.Val353SerfsTer26
NM_001127491.2:c.1057del	NP_001120963.2:p.Val353SerfsTer26
NM_001303238.1:c.850del	NP_001290167.1:p.Val284SerfsTer26
XM_006724001.1:c.850del	XP_006724064.1:p.Val284SerfsTer26
XM_006724001.2:c.850del	XP_006724064.1:p.Val284SerfsTer26
NM_000211.5:c.1057del MANE Select	NP_000202.3:p.Val353SerfsTer26
NM_001127491.3:c.1057del	NP_001120963.2:p.Val353SerfsTer26
NM_001303238.2:c.850del	NP_001290167.1:p.Val284SerfsTer26