Canonical Allele Identifier: CA2654867103

Gene: ITGB2

Linked Data

• gnomAD v4: 21-44893537-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44893538del , CM000683.2:g.44893538del	GRCh38
NC_000021.8:g.46313453del , CM000683.1:g.46313453del	GRCh37
NC_000021.7:g.45137881del	NCBI36
NG_007270.2:g.40301del , LRG_76:g.40301del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.1162del	ENSP00000303242.6:p.Ser388ProfsTer15
ENST00000652462.1:c.1090del MANE Select	ENSP00000498780.1:p.Ser364ProfsTer15
ENST00000302347.9:c.1090del	ENSP00000303242.5:p.Ser364ProfsTer15
ENST00000355153.8:c.1090del	ENSP00000347279.4:p.Ser364ProfsTer15
ENST00000397850.6:c.1090del	ENSP00000380948.2:p.Ser364ProfsTer15
ENST00000397852.5:c.1090del	ENSP00000380950.1:p.Ser364ProfsTer15
ENST00000397854.7:c.919del	ENSP00000380952.3:p.Ser307ProfsTer15
ENST00000397857.5:c.1090del	ENSP00000380955.1:p.Ser364ProfsTer15
ENST00000475170.5:n.490del
ENST00000498666.5:n.2659del
ENST00000523323.5:c.*917del	ENSP00000427732.1:n.*917del
ENST00000610622.4:c.919del	ENSP00000480700.1:p.Ser307ProfsTer15
NM_000211.4:c.1090del	NP_000202.3:p.Ser364ProfsTer15
NM_001127491.2:c.1090del	NP_001120963.2:p.Ser364ProfsTer15
NM_001303238.1:c.883del	NP_001290167.1:p.Ser295ProfsTer15
XM_006724001.1:c.883del	XP_006724064.1:p.Ser295ProfsTer15
XM_006724001.2:c.883del	XP_006724064.1:p.Ser295ProfsTer15
NM_000211.5:c.1090del MANE Select	NP_000202.3:p.Ser364ProfsTer15
NM_001127491.3:c.1090del	NP_001120963.2:p.Ser364ProfsTer15
NM_001303238.2:c.883del	NP_001290167.1:p.Ser295ProfsTer15