Canonical Allele Identifier: CA772285645

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1303862524
• gnomAD v3: 17-44375317-TC-T
• gnomAD v4: 17-44375317-TC-T
• MyVariant Identifiers: chr17:g.42452686del (hg19) ; chr17:g.44375318del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375322del , CM000679.2:g.44375322del	GRCh38
NC_000017.10:g.42452690del , CM000679.1:g.42452690del	GRCh37
NC_000017.9:g.39808216del	NCBI36
NG_008331.1:g.19188del , LRG_479:g.19188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2728-207del MANE Select	ENSP00000262407.5:n.2728-207del
ENST00000648408.1:c.2159-207del
ENST00000262407.5:c.2728-207del	ENSP00000262407.5:n.2728-207del
ENST00000587295.5:c.253+515del
ENST00000592462.5:n.1795del
NM_000419.3:c.2728-207del , LRG_479t1:c.2728-207del	NP_000410.2:n.2728-207del
XM_011524749.1:c.2728-207del	XP_011523051.1:n.2728-207del
XM_011524750.1:c.2728-207del	XP_011523052.1:n.2728-207del
NM_000419.4:c.2728-207del	NP_000410.2:n.2728-207del
NM_000419.5:c.2728-207del MANE Select	NP_000410.2:n.2728-207del