Canonical Allele Identifier: CA512551692
Gene: ITGB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.46321470A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44901555A>T , CM000683.2:g.44901555A>T GRCh38
NC_000021.8:g.46321470A>T , CM000683.1:g.46321470A>T GRCh37
NC_000021.7:g.45145898A>T NCBI36
NG_007270.2:g.32284T>A , LRG_76:g.32284T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302347.10:c.678T>A ENSP00000303242.6:p.Ile226=
ENST00000652462.1:c.678T>A MANE Select ENSP00000498780.1:p.Ile226=
ENST00000302347.9:c.678T>A ENSP00000303242.5:p.Ile226=
ENST00000320216.10:c.651T>A ENSP00000317697.6:p.Ile217=
ENST00000355153.8:c.678T>A ENSP00000347279.4:p.Ile226=
ENST00000397850.6:c.678T>A ENSP00000380948.2:p.Ile226=
ENST00000397852.5:c.678T>A ENSP00000380950.1:p.Ile226=
ENST00000397854.7:c.507T>A ENSP00000380952.3:p.Ile169=
ENST00000397857.5:c.678T>A ENSP00000380955.1:p.Ile226=
ENST00000498666.5:n.821T>A
ENST00000521987.1:n.559T>A
ENST00000523323.5:c.*505T>A ENSP00000427732.1:n.*505T>A
ENST00000610622.4:c.507T>A ENSP00000480700.1:p.Ile169=
NM_000211.4:c.678T>A NP_000202.3:p.Ile226=
NM_001127491.2:c.678T>A NP_001120963.2:p.Ile226=
NM_001303238.1:c.471T>A NP_001290167.1:p.Ile157=
XM_006724001.1:c.471T>A XP_006724064.1:p.Ile157=
XM_006724001.2:c.471T>A XP_006724064.1:p.Ile157=
NM_000211.5:c.678T>A MANE Select NP_000202.3:p.Ile226=
NM_001127491.3:c.678T>A NP_001120963.2:p.Ile226=
NM_001303238.2:c.471T>A NP_001290167.1:p.Ile157=