Canonical Allele Identifier: CA512551644
Gene: ITGB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.46314961G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44895046G>T , CM000683.2:g.44895046G>T GRCh38
NC_000021.8:g.46314961G>T , CM000683.1:g.46314961G>T GRCh37
NC_000021.7:g.45139389G>T NCBI36
NG_007270.2:g.38793C>A , LRG_76:g.38793C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302347.10:c.1080C>A ENSP00000303242.6:p.Ile360=
ENST00000652462.1:c.1008C>A MANE Select ENSP00000498780.1:p.Ile336=
ENST00000302347.9:c.1008C>A ENSP00000303242.5:p.Ile336=
ENST00000355153.8:c.1008C>A ENSP00000347279.4:p.Ile336=
ENST00000397850.6:c.1008C>A ENSP00000380948.2:p.Ile336=
ENST00000397852.5:c.1008C>A ENSP00000380950.1:p.Ile336=
ENST00000397854.7:c.837C>A ENSP00000380952.3:p.Ile279=
ENST00000397857.5:c.1008C>A ENSP00000380955.1:p.Ile336=
ENST00000498666.5:n.1151C>A
ENST00000523323.5:c.*835C>A ENSP00000427732.1:n.*835C>A
ENST00000610622.4:c.837C>A ENSP00000480700.1:p.Ile279=
NM_000211.4:c.1008C>A NP_000202.3:p.Ile336=
NM_001127491.2:c.1008C>A NP_001120963.2:p.Ile336=
NM_001303238.1:c.801C>A NP_001290167.1:p.Ile267=
XM_006724001.1:c.801C>A XP_006724064.1:p.Ile267=
XM_006724001.2:c.801C>A XP_006724064.1:p.Ile267=
NM_000211.5:c.1008C>A MANE Select NP_000202.3:p.Ile336=
NM_001127491.3:c.1008C>A NP_001120963.2:p.Ile336=
NM_001303238.2:c.801C>A NP_001290167.1:p.Ile267=