Canonical Allele Identifier: CA772285644

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1303862524
• gnomAD v3: 17-44375317-T-TCC
• gnomAD v4: 17-44375317-T-TCC
• MyVariant Identifiers: chr17:g.42452685_42452686insCC (hg19) ; chr17:g.44375317_44375318insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375321_44375322dup , CM000679.2:g.44375321_44375322dup	GRCh38
NC_000017.10:g.42452689_42452690dup , CM000679.1:g.42452689_42452690dup	GRCh37
NC_000017.9:g.39808215_39808216dup	NCBI36
NG_008331.1:g.19187_19188dup , LRG_479:g.19187_19188dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2728-208_2728-207dup MANE Select	ENSP00000262407.5:n.2728-208_2728-207dup
ENST00000648408.1:c.2159-208_2159-207dup
ENST00000262407.5:c.2728-208_2728-207dup	ENSP00000262407.5:n.2728-208_2728-207dup
ENST00000587295.5:c.253+514_253+515dup
ENST00000592462.5:n.1794_1795dup
NM_000419.3:c.2728-208_2728-207dup , LRG_479t1:c.2728-208_2728-207dup	NP_000410.2:n.2728-208_2728-207dup
XM_011524749.1:c.2728-208_2728-207dup	XP_011523051.1:n.2728-208_2728-207dup
XM_011524750.1:c.2728-208_2728-207dup	XP_011523052.1:n.2728-208_2728-207dup
NM_000419.4:c.2728-208_2728-207dup	NP_000410.2:n.2728-208_2728-207dup
NM_000419.5:c.2728-208_2728-207dup MANE Select	NP_000410.2:n.2728-208_2728-207dup