Canonical Allele Identifier: CA2573157700

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 1608177
• ClinVar RCV Id: RCV002147250
• dbSNP Id: rs2146490954

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44886729C>A , CM000683.2:g.44886729C>A	GRCh38
NC_000021.8:g.46306644C>A , CM000683.1:g.46306644C>A	GRCh37
NC_000021.7:g.45131072C>A	NCBI36
NG_007270.2:g.47110G>T , LRG_76:g.47110G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1454+7G>T
ENST00000302347.10:c.2319+7G>T	ENSP00000303242.6:n.2319+7G>T
ENST00000652462.1:c.2247+7G>T MANE Select	ENSP00000498780.1:n.2247+7G>T
ENST00000302347.9:c.2247+7G>T	ENSP00000303242.5:n.2247+7G>T
ENST00000355153.8:c.2247+7G>T	ENSP00000347279.4:n.2247+7G>T
ENST00000397850.6:c.2247+7G>T	ENSP00000380948.2:n.2247+7G>T
ENST00000397852.5:c.2247+7G>T	ENSP00000380950.1:n.2247+7G>T
ENST00000397854.7:c.2076+7G>T	ENSP00000380952.3:n.2076+7G>T
ENST00000397857.5:c.2247+7G>T	ENSP00000380955.1:n.2247+7G>T
ENST00000475170.5:n.1647+7G>T
ENST00000479202.5:n.606+7G>T
ENST00000498666.5:n.4303+7G>T
ENST00000523323.5:c.*2074+7G>T	ENSP00000427732.1:n.*2074+7G>T
ENST00000610622.4:c.*938+7G>T	ENSP00000480700.1:n.*938+7G>T
NM_000211.4:c.2247+7G>T	NP_000202.3:n.2247+7G>T
NM_001127491.2:c.2247+7G>T	NP_001120963.2:n.2247+7G>T
NM_001303238.1:c.2040+7G>T	NP_001290167.1:n.2040+7G>T
XM_006724001.1:c.2040+7G>T	XP_006724064.1:n.2040+7G>T
XM_006724001.2:c.2040+7G>T	XP_006724064.1:n.2040+7G>T
NM_000211.5:c.2247+7G>T MANE Select	NP_000202.3:n.2247+7G>T
NM_001127491.3:c.2247+7G>T	NP_001120963.2:n.2247+7G>T
NM_001303238.2:c.2040+7G>T	NP_001290167.1:n.2040+7G>T