Canonical Allele Identifier: CA399790917
Gene: ITGA2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374715C>G , CM000679.2:g.44374715C>G GRCh38
NC_000017.10:g.42452083C>G , CM000679.1:g.42452083C>G GRCh37
NC_000017.9:g.39807609C>G NCBI36
NG_008331.1:g.19791G>C , LRG_479:g.19791G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2887G>C MANE Select ENSP00000262407.5:p.Val963Leu
ENST00000648408.1:c.2318G>C
ENST00000262407.5:c.2887G>C ENSP00000262407.5:p.Val963Leu
ENST00000587295.5:c.253+1118G>C
ENST00000592462.5:n.2398G>C
NM_000419.3:c.2887G>C , LRG_479t1:c.2887G>C NP_000410.2:p.Val963Leu
XM_011524749.1:c.2842-245G>C XP_011523051.1:n.2842-245G>C
XM_011524750.1:c.2887G>C XP_011523052.1:p.Val963Leu
NM_000419.4:c.2887G>C NP_000410.2:p.Val963Leu
NM_000419.5:c.2887G>C MANE Select NP_000410.2:p.Val963Leu