Canonical Allele Identifier: CA919847168

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1598376235
• gnomAD v4: 17-44375211-TTCAGGAAGCGGTGGCCTTCCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375220_44375241del , CM000679.2:g.44375220_44375241del	GRCh38
NC_000017.10:g.42452588_42452609del , CM000679.1:g.42452588_42452609del	GRCh37
NC_000017.9:g.39808114_39808135del	NCBI36
NG_008331.1:g.19273_19294del , LRG_479:g.19273_19294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2728-122_2728-101del MANE Select	ENSP00000262407.5:n.2728-122_2728-101del
ENST00000648408.1:c.2159-122_2159-101del
ENST00000262407.5:c.2728-122_2728-101del	ENSP00000262407.5:n.2728-122_2728-101del
ENST00000587295.5:c.253+600_253+621del
ENST00000592462.5:n.1880_1901del
NM_000419.3:c.2728-122_2728-101del , LRG_479t1:c.2728-122_2728-101del	NP_000410.2:n.2728-122_2728-101del
XM_011524749.1:c.2728-122_2728-101del	XP_011523051.1:n.2728-122_2728-101del
XM_011524750.1:c.2728-122_2728-101del	XP_011523052.1:n.2728-122_2728-101del
NM_000419.4:c.2728-122_2728-101del	NP_000410.2:n.2728-122_2728-101del
NM_000419.5:c.2728-122_2728-101del MANE Select	NP_000410.2:n.2728-122_2728-101del