Canonical Allele Identifier: CA983995401

Gene: ITGA2B

Linked Data

• dbSNP Id: rs2048532480
• gnomAD v3: 17-44375465-G-A
• gnomAD v4: 17-44375465-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375465G>A , CM000679.2:g.44375465G>A	GRCh38
NC_000017.10:g.42452833G>A , CM000679.1:g.42452833G>A	GRCh37
NC_000017.9:g.39808359G>A	NCBI36
NG_008331.1:g.19041C>T , LRG_479:g.19041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2727+126C>T MANE Select	ENSP00000262407.5:n.2727+126C>T
ENST00000648408.1:c.2158+126C>T
ENST00000262407.5:c.2727+126C>T	ENSP00000262407.5:n.2727+126C>T
ENST00000587295.5:c.253+368C>T
ENST00000592462.5:n.1648C>T
NM_000419.3:c.2727+126C>T , LRG_479t1:c.2727+126C>T	NP_000410.2:n.2727+126C>T
XM_011524749.1:c.2727+126C>T	XP_011523051.1:n.2727+126C>T
XM_011524750.1:c.2727+126C>T	XP_011523052.1:n.2727+126C>T
NM_000419.4:c.2727+126C>T	NP_000410.2:n.2727+126C>T
NM_000419.5:c.2727+126C>T MANE Select	NP_000410.2:n.2727+126C>T