Canonical Allele Identifier: CA512551457

Gene: ITGB2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44900380C>G , CM000683.2:g.44900380C>G	GRCh38
NC_000021.8:g.46320295C>G , CM000683.1:g.46320295C>G	GRCh37
NC_000021.7:g.45144723C>G	NCBI36
NG_007270.2:g.33459G>C , LRG_76:g.33459G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000211.5:c.837G>C MANE Select	NP_000202.3:p.Leu279=
ENST00000652462.1:c.837G>C MANE Select	ENSP00000498780.1:p.Leu279=
NM_000211.4:c.837G>C	NP_000202.3:p.Leu279=
NM_001127491.2:c.837G>C	NP_001120963.2:p.Leu279=
NM_001127491.3:c.837G>C	NP_001120963.2:p.Leu279=
NM_001303238.1:c.630G>C	NP_001290167.1:p.Leu210=
NM_001303238.2:c.630G>C	NP_001290167.1:p.Leu210=
ENST00000302347.10:c.837G>C	ENSP00000303242.6:p.Leu279=
ENST00000302347.9:c.837G>C	ENSP00000303242.5:p.Leu279=
ENST00000320216.10:c.810G>C	ENSP00000317697.6:p.Leu270=
ENST00000355153.8:c.837G>C	ENSP00000347279.4:p.Leu279=
ENST00000397850.6:c.837G>C	ENSP00000380948.2:p.Leu279=
ENST00000397852.5:c.837G>C	ENSP00000380950.1:p.Leu279=
ENST00000397854.7:c.666G>C	ENSP00000380952.3:p.Leu222=
ENST00000397857.5:c.837G>C	ENSP00000380955.1:p.Leu279=
ENST00000498666.5:n.980G>C
ENST00000523323.5:c.*664G>C	ENSP00000427732.1:n.*664G>C
ENST00000610622.4:c.666G>C	ENSP00000480700.1:p.Leu222=
XM_006724001.1:c.630G>C	XP_006724064.1:p.Leu210=
XM_006724001.2:c.630G>C	XP_006724064.1:p.Leu210=