Canonical Allele Identifier: CA500280134

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1325850909
• gnomAD v4: 17-44385024-G-T
• MyVariant Identifiers: chr17:g.42462392G>T (hg19) ; chr17:g.44385024G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44385024G>T , CM000679.2:g.44385024G>T	GRCh38
NC_000017.10:g.42462392G>T , CM000679.1:g.42462392G>T	GRCh37
NC_000017.9:g.39817918G>T	NCBI36
NG_008331.1:g.9482C>A , LRG_479:g.9482C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.723C>A MANE Select	ENSP00000262407.5:p.Gly241=
ENST00000648408.1:c.154C>A
ENST00000262407.5:c.723C>A	ENSP00000262407.5:p.Gly241=
ENST00000589645.5:n.174C>A
ENST00000591990.5:n.85C>A
ENST00000592075.5:n.92C>A
ENST00000592226.5:n.39+140C>A
ENST00000592253.5:n.231C>A
ENST00000592944.1:n.405C>A
NM_000419.3:c.723C>A , LRG_479t1:c.723C>A	NP_000410.2:p.Gly241=
XM_011524749.1:c.723C>A	XP_011523051.1:p.Gly241=
XM_011524750.1:c.723C>A	XP_011523052.1:p.Gly241=
NM_000419.4:c.723C>A	NP_000410.2:p.Gly241=
NM_000419.5:c.723C>A MANE Select	NP_000410.2:p.Gly241=