Canonical Allele Identifier: CA410485776
Gene: ITGB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1444107
ClinVar RCV Id: RCV001981652
dbSNP Id: rs1162085262

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44893449C>G , CM000683.2:g.44893449C>G GRCh38
NC_000021.8:g.46313364C>G , CM000683.1:g.46313364C>G GRCh37
NC_000021.7:g.45137792C>G NCBI36
NG_007270.2:g.40390G>C , LRG_76:g.40390G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302347.10:c.1251G>C ENSP00000303242.6:p.Arg417Ser
ENST00000652462.1:c.1179G>C MANE Select ENSP00000498780.1:p.Arg393Ser
ENST00000302347.9:c.1179G>C ENSP00000303242.5:p.Arg393Ser
ENST00000355153.8:c.1179G>C ENSP00000347279.4:p.Arg393Ser
ENST00000397850.6:c.1179G>C ENSP00000380948.2:p.Arg393Ser
ENST00000397852.5:c.1179G>C ENSP00000380950.1:p.Arg393Ser
ENST00000397854.7:c.1008G>C ENSP00000380952.3:p.Arg336Ser
ENST00000397857.5:c.1179G>C ENSP00000380955.1:p.Arg393Ser
ENST00000475170.5:n.579G>C
ENST00000498666.5:n.2748G>C
ENST00000523323.5:c.*1006G>C ENSP00000427732.1:n.*1006G>C
ENST00000610622.4:c.1008G>C ENSP00000480700.1:p.Arg336Ser
NM_000211.4:c.1179G>C NP_000202.3:p.Arg393Ser
NM_001127491.2:c.1179G>C NP_001120963.2:p.Arg393Ser
NM_001303238.1:c.972G>C NP_001290167.1:p.Arg324Ser
XM_006724001.1:c.972G>C XP_006724064.1:p.Arg324Ser
XM_006724001.2:c.972G>C XP_006724064.1:p.Arg324Ser
NM_000211.5:c.1179G>C MANE Select NP_000202.3:p.Arg393Ser
NM_001127491.3:c.1179G>C NP_001120963.2:p.Arg393Ser
NM_001303238.2:c.972G>C NP_001290167.1:p.Arg324Ser