Canonical Allele Identifier: CA2841871406

Gene: ITGB2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44889311dup , CM000683.2:g.44889311dup	GRCh38
NC_000021.8:g.46309226dup , CM000683.1:g.46309226dup	GRCh37
NC_000021.7:g.45133654dup	NCBI36
NG_007270.2:g.44528dup , LRG_76:g.44528dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1049dup
ENST00000302347.10:c.1914dup	ENSP00000303242.6:p.Cys639ValfsTer?
ENST00000652462.1:c.1842dup MANE Select	ENSP00000498780.1:p.Cys615ValfsTer?
ENST00000302347.9:c.1842dup	ENSP00000303242.5:p.Cys615ValfsTer?
ENST00000355153.8:c.1842dup	ENSP00000347279.4:p.Cys615ValfsTer?
ENST00000397850.6:c.1842dup	ENSP00000380948.2:p.Cys615ValfsTer?
ENST00000397852.5:c.1842dup	ENSP00000380950.1:p.Cys615ValfsTer?
ENST00000397854.7:c.1671dup	ENSP00000380952.3:p.Cys558ValfsTer?
ENST00000397857.5:c.1842dup	ENSP00000380955.1:p.Cys615ValfsTer?
ENST00000475170.5:n.1242dup
ENST00000498666.5:n.3898dup
ENST00000523323.5:c.*1669dup	ENSP00000427732.1:n.*1669dup
ENST00000610622.4:c.*533dup	ENSP00000480700.1:n.*533dup
NM_000211.4:c.1842dup	NP_000202.3:p.Cys615ValfsTer?
NM_001127491.2:c.1842dup	NP_001120963.2:p.Cys615ValfsTer?
NM_001303238.1:c.1635dup	NP_001290167.1:p.Cys546ValfsTer?
XM_006724001.1:c.1635dup	XP_006724064.1:p.Cys546ValfsTer?
XM_006724001.2:c.1635dup	XP_006724064.1:p.Cys546ValfsTer?
NM_000211.5:c.1842dup MANE Select	NP_000202.3:p.Cys615ValfsTer?
NM_001127491.3:c.1842dup	NP_001120963.2:p.Cys615ValfsTer?
NM_001303238.2:c.1635dup	NP_001290167.1:p.Cys546ValfsTer?