Canonical Allele Identifier: CA2638214959

Gene: ITGA2B

Linked Data

• gnomAD v4: 17-44374911-GCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374915_44374956del , CM000679.2:g.44374915_44374956del	GRCh38
NC_000017.10:g.42452283_42452324del , CM000679.1:g.42452283_42452324del	GRCh37
NC_000017.9:g.39807809_39807850del	NCBI36
NG_008331.1:g.19553_19594del , LRG_479:g.19553_19594del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.2841+45_2841+86del MANE Select	ENSP00000262407.5:n.2841+45_2841+86del
ENST00000648408.1:c.2272+45_2272+86del
ENST00000262407.5:c.2841+45_2841+86del	ENSP00000262407.5:n.2841+45_2841+86del
ENST00000587295.5:c.253+880_253+921del
ENST00000592462.5:n.2160_2201del
NM_000419.3:c.2841+45_2841+86del , LRG_479t1:c.2841+45_2841+86del	NP_000410.2:n.2841+45_2841+86del
XM_011524749.1:c.2841+45_2841+86del	XP_011523051.1:n.2841+45_2841+86del
XM_011524750.1:c.2841+45_2841+86del	XP_011523052.1:n.2841+45_2841+86del
NM_000419.4:c.2841+45_2841+86del	NP_000410.2:n.2841+45_2841+86del
NM_000419.5:c.2841+45_2841+86del MANE Select	NP_000410.2:n.2841+45_2841+86del