Canonical Allele Identifier: CA500272139
Gene: ITGA2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.42457156C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44379788C>T , CM000679.2:g.44379788C>T GRCh38
NC_000017.10:g.42457156C>T , CM000679.1:g.42457156C>T GRCh37
NC_000017.9:g.39812682C>T NCBI36
NG_008331.1:g.14718G>A , LRG_479:g.14718G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262407.6:c.1779G>A MANE Select ENSP00000262407.5:p.Leu593=
ENST00000648408.1:c.1210G>A
ENST00000262407.5:c.1779G>A ENSP00000262407.5:p.Leu593=
ENST00000592462.5:n.574G>A
NM_000419.3:c.1779G>A , LRG_479t1:c.1779G>A NP_000410.2:p.Leu593=
XM_011524749.1:c.1779G>A XP_011523051.1:p.Leu593=
XM_011524750.1:c.1779G>A XP_011523052.1:p.Leu593=
NM_000419.4:c.1779G>A NP_000410.2:p.Leu593=
NM_000419.5:c.1779G>A MANE Select NP_000410.2:p.Leu593=