Canonical Allele Identifier: CA983997668

Gene: ITGA2B

Linked Data

• dbSNP Id: rs2048575928
• gnomAD v3: 17-44379649-G-A
• gnomAD v4: 17-44379649-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44379649G>A , CM000679.2:g.44379649G>A	GRCh38
NC_000017.10:g.42457017G>A , CM000679.1:g.42457017G>A	GRCh37
NC_000017.9:g.39812543G>A	NCBI36
NG_008331.1:g.14857C>T , LRG_479:g.14857C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.1878+40C>T MANE Select	ENSP00000262407.5:n.1878+40C>T
ENST00000648408.1:c.1309+40C>T
ENST00000262407.5:c.1878+40C>T	ENSP00000262407.5:n.1878+40C>T
ENST00000592462.5:n.673+40C>T
NM_000419.3:c.1878+40C>T , LRG_479t1:c.1878+40C>T	NP_000410.2:n.1878+40C>T
XM_011524749.1:c.1878+40C>T	XP_011523051.1:n.1878+40C>T
XM_011524750.1:c.1878+40C>T	XP_011523052.1:n.1878+40C>T
NM_000419.4:c.1878+40C>T	NP_000410.2:n.1878+40C>T
NM_000419.5:c.1878+40C>T MANE Select	NP_000410.2:n.1878+40C>T