Canonical Allele Identifier: CA512549172
Gene: ITGB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.46306762G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44886847G>T , CM000683.2:g.44886847G>T GRCh38
NC_000021.8:g.46306762G>T , CM000683.1:g.46306762G>T GRCh37
NC_000021.7:g.45131190G>T NCBI36
NG_007270.2:g.46992C>A , LRG_76:g.46992C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696946.1:n.1343C>A
ENST00000302347.10:c.2208C>A ENSP00000303242.6:p.Ile736=
ENST00000652462.1:c.2136C>A MANE Select ENSP00000498780.1:p.Ile712=
ENST00000302347.9:c.2136C>A ENSP00000303242.5:p.Ile712=
ENST00000355153.8:c.2136C>A ENSP00000347279.4:p.Ile712=
ENST00000397850.6:c.2136C>A ENSP00000380948.2:p.Ile712=
ENST00000397852.5:c.2136C>A ENSP00000380950.1:p.Ile712=
ENST00000397854.7:c.1965C>A ENSP00000380952.3:p.Ile655=
ENST00000397857.5:c.2136C>A ENSP00000380955.1:p.Ile712=
ENST00000475170.5:n.1536C>A
ENST00000479202.5:n.495C>A
ENST00000498666.5:n.4192C>A
ENST00000523323.5:c.*1963C>A ENSP00000427732.1:n.*1963C>A
ENST00000610622.4:c.*827C>A ENSP00000480700.1:n.*827C>A
NM_000211.4:c.2136C>A NP_000202.3:p.Ile712=
NM_001127491.2:c.2136C>A NP_001120963.2:p.Ile712=
NM_001303238.1:c.1929C>A NP_001290167.1:p.Ile643=
XM_006724001.1:c.1929C>A XP_006724064.1:p.Ile643=
XM_006724001.2:c.1929C>A XP_006724064.1:p.Ile643=
NM_000211.5:c.2136C>A MANE Select NP_000202.3:p.Ile712=
NM_001127491.3:c.2136C>A NP_001120963.2:p.Ile712=
NM_001303238.2:c.1929C>A NP_001290167.1:p.Ile643=