Canonical Allele Identifier: CA10062895
Gene: ITGB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1424873
ClinVar RCV Id: RCV001924100
dbSNP Id: rs763860990

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44893405G>A , CM000683.2:g.44893405G>A GRCh38
NC_000021.8:g.46313320G>A , CM000683.1:g.46313320G>A GRCh37
NC_000021.7:g.45137748G>A NCBI36
NG_007270.2:g.40434C>T , LRG_76:g.40434C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302347.10:c.1295C>T ENSP00000303242.6:p.Pro432Leu
ENST00000652462.1:c.1223C>T MANE Select ENSP00000498780.1:p.Pro408Leu
ENST00000302347.9:c.1223C>T ENSP00000303242.5:p.Pro408Leu
ENST00000355153.8:c.1223C>T ENSP00000347279.4:p.Pro408Leu
ENST00000397850.6:c.1223C>T ENSP00000380948.2:p.Pro408Leu
ENST00000397852.5:c.1223C>T ENSP00000380950.1:p.Pro408Leu
ENST00000397854.7:c.1052C>T ENSP00000380952.3:p.Pro351Leu
ENST00000397857.5:c.1223C>T ENSP00000380955.1:p.Pro408Leu
ENST00000475170.5:n.623C>T
ENST00000498666.5:n.2792C>T
ENST00000523323.5:c.*1050C>T ENSP00000427732.1:n.*1050C>T
ENST00000610622.4:c.1052C>T ENSP00000480700.1:p.Pro351Leu
NM_000211.4:c.1223C>T NP_000202.3:p.Pro408Leu
NM_001127491.2:c.1223C>T NP_001120963.2:p.Pro408Leu
NM_001303238.1:c.1016C>T NP_001290167.1:p.Pro339Leu
XM_006724001.1:c.1016C>T XP_006724064.1:p.Pro339Leu
XM_006724001.2:c.1016C>T XP_006724064.1:p.Pro339Leu
NM_000211.5:c.1223C>T MANE Select NP_000202.3:p.Pro408Leu
NM_001127491.3:c.1223C>T NP_001120963.2:p.Pro408Leu
NM_001303238.2:c.1016C>T NP_001290167.1:p.Pro339Leu