Canonical Allele Identifier: CA626224466

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1215699443
• gnomAD v2: 17-42452013-C-A
• gnomAD v3: 17-44374645-C-A
• gnomAD v4: 17-44374645-C-A
• MyVariant Identifiers: chr17:g.42452013C>A (hg19) ; chr17:g.44374645C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374645C>A , CM000679.2:g.44374645C>A	GRCh38
NC_000017.10:g.42452013C>A , CM000679.1:g.42452013C>A	GRCh37
NC_000017.9:g.39807539C>A	NCBI36
NG_008331.1:g.19861G>T , LRG_479:g.19861G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2943+14G>T MANE Select	ENSP00000262407.5:n.2943+14G>T
ENST00000648408.1:c.2374+14G>T
ENST00000262407.5:c.2943+14G>T	ENSP00000262407.5:n.2943+14G>T
ENST00000587295.5:c.253+1188G>T
ENST00000588098.1:c.37+14G>T
ENST00000592462.5:n.2468G>T
NM_000419.3:c.2943+14G>T , LRG_479t1:c.2943+14G>T	NP_000410.2:n.2943+14G>T
XM_011524749.1:c.2842-175G>T	XP_011523051.1:n.2842-175G>T
XM_011524750.1:c.2943+14G>T	XP_011523052.1:n.2943+14G>T
NM_000419.4:c.2943+14G>T	NP_000410.2:n.2943+14G>T
NM_000419.5:c.2943+14G>T MANE Select	NP_000410.2:n.2943+14G>T