Canonical Allele Identifier: CA115846
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2900
dbSNP Id: rs76811038

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44379780A>G , CM000679.2:g.44379780A>G GRCh38
NC_000017.10:g.42457148A>G , CM000679.1:g.42457148A>G GRCh37
NC_000017.9:g.39812674A>G NCBI36
NG_008331.1:g.14726T>C , LRG_479:g.14726T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262407.6:c.1787T>C MANE Select ENSP00000262407.5:p.Ile596Thr
ENST00000648408.1:n.1218T>C
ENST00000262407.5:c.1787T>C ENSP00000262407.5:p.Ile596Thr
ENST00000592462.5:n.582T>C
NM_000419.3:c.1787T>C , LRG_479t1:c.1787T>C NP_000410.2:p.Ile596Thr
XM_011524749.1:c.1787T>C XP_011523051.1:p.Ile596Thr
XM_011524750.1:c.1787T>C XP_011523052.1:p.Ile596Thr
NM_000419.4:c.1787T>C NP_000410.2:p.Ile596Thr
NM_000419.5:c.1787T>C MANE Select NP_000410.2:p.Ile596Thr