Canonical Allele Identifier: CA512549164

Gene: ITGB2

Linked Data

• MyVariant Identifiers: chr21:g.46306750G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44886835G>T , CM000683.2:g.44886835G>T	GRCh38
NC_000021.8:g.46306750G>T , CM000683.1:g.46306750G>T	GRCh37
NC_000021.7:g.45131178G>T	NCBI36
NG_007270.2:g.47004C>A , LRG_76:g.47004C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1355C>A
ENST00000302347.10:c.2220C>A	ENSP00000303242.6:p.Gly740=
ENST00000652462.1:c.2148C>A MANE Select	ENSP00000498780.1:p.Gly716=
ENST00000302347.9:c.2148C>A	ENSP00000303242.5:p.Gly716=
ENST00000355153.8:c.2148C>A	ENSP00000347279.4:p.Gly716=
ENST00000397850.6:c.2148C>A	ENSP00000380948.2:p.Gly716=
ENST00000397852.5:c.2148C>A	ENSP00000380950.1:p.Gly716=
ENST00000397854.7:c.1977C>A	ENSP00000380952.3:p.Gly659=
ENST00000397857.5:c.2148C>A	ENSP00000380955.1:p.Gly716=
ENST00000475170.5:n.1548C>A
ENST00000479202.5:n.507C>A
ENST00000498666.5:n.4204C>A
ENST00000523323.5:c.*1975C>A	ENSP00000427732.1:n.*1975C>A
ENST00000610622.4:c.*839C>A	ENSP00000480700.1:n.*839C>A
NM_000211.4:c.2148C>A	NP_000202.3:p.Gly716=
NM_001127491.2:c.2148C>A	NP_001120963.2:p.Gly716=
NM_001303238.1:c.1941C>A	NP_001290167.1:p.Gly647=
XM_006724001.1:c.1941C>A	XP_006724064.1:p.Gly647=
XM_006724001.2:c.1941C>A	XP_006724064.1:p.Gly647=
NM_000211.5:c.2148C>A MANE Select	NP_000202.3:p.Gly716=
NM_001127491.3:c.2148C>A	NP_001120963.2:p.Gly716=
NM_001303238.2:c.1941C>A	NP_001290167.1:p.Gly647=