Canonical Allele Identifier: CA512551518
Gene: ITGB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.46313349A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44893434A>T , CM000683.2:g.44893434A>T GRCh38
NC_000021.8:g.46313349A>T , CM000683.1:g.46313349A>T GRCh37
NC_000021.7:g.45137777A>T NCBI36
NG_007270.2:g.40405T>A , LRG_76:g.40405T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302347.10:c.1266T>A ENSP00000303242.6:p.Gly422=
ENST00000652462.1:c.1194T>A MANE Select ENSP00000498780.1:p.Gly398=
ENST00000302347.9:c.1194T>A ENSP00000303242.5:p.Gly398=
ENST00000355153.8:c.1194T>A ENSP00000347279.4:p.Gly398=
ENST00000397850.6:c.1194T>A ENSP00000380948.2:p.Gly398=
ENST00000397852.5:c.1194T>A ENSP00000380950.1:p.Gly398=
ENST00000397854.7:c.1023T>A ENSP00000380952.3:p.Gly341=
ENST00000397857.5:c.1194T>A ENSP00000380955.1:p.Gly398=
ENST00000475170.5:n.594T>A
ENST00000498666.5:n.2763T>A
ENST00000523323.5:c.*1021T>A ENSP00000427732.1:n.*1021T>A
ENST00000610622.4:c.1023T>A ENSP00000480700.1:p.Gly341=
NM_000211.4:c.1194T>A NP_000202.3:p.Gly398=
NM_001127491.2:c.1194T>A NP_001120963.2:p.Gly398=
NM_001303238.1:c.987T>A NP_001290167.1:p.Gly329=
XM_006724001.1:c.987T>A XP_006724064.1:p.Gly329=
XM_006724001.2:c.987T>A XP_006724064.1:p.Gly329=
NM_000211.5:c.1194T>A MANE Select NP_000202.3:p.Gly398=
NM_001127491.3:c.1194T>A NP_001120963.2:p.Gly398=
NM_001303238.2:c.987T>A NP_001290167.1:p.Gly329=