Canonical Allele Identifier: CA8602942
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 627020
dbSNP Id: rs778608263

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44379795T>G , CM000679.2:g.44379795T>G GRCh38
NC_000017.10:g.42457163T>G , CM000679.1:g.42457163T>G GRCh37
NC_000017.9:g.39812689T>G NCBI36
NG_008331.1:g.14711A>C , LRG_479:g.14711A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262407.6:c.1772A>C MANE Select ENSP00000262407.5:p.Asp591Ala
ENST00000648408.1:c.1203A>C
ENST00000262407.5:c.1772A>C ENSP00000262407.5:p.Asp591Ala
ENST00000592462.5:n.567A>C
NM_000419.3:c.1772A>C , LRG_479t1:c.1772A>C NP_000410.2:p.Asp591Ala
XM_011524749.1:c.1772A>C XP_011523051.1:p.Asp591Ala
XM_011524750.1:c.1772A>C XP_011523052.1:p.Asp591Ala
NM_000419.4:c.1772A>C NP_000410.2:p.Asp591Ala
NM_000419.5:c.1772A>C MANE Select NP_000410.2:p.Asp591Ala