Canonical Allele Identifier: CA772285140

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1434115266
• gnomAD v3: 17-44374282-T-A
• gnomAD v4: 17-44374282-T-A
• MyVariant Identifiers: chr17:g.42451650T>A (hg19) ; chr17:g.44374282T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374282T>A , CM000679.2:g.44374282T>A	GRCh38
NC_000017.10:g.42451650T>A , CM000679.1:g.42451650T>A	GRCh37
NC_000017.9:g.39807176T>A	NCBI36
NG_008331.1:g.20224A>T , LRG_479:g.20224A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.3060+72A>T MANE Select	ENSP00000262407.5:n.3060+72A>T
ENST00000648408.1:c.2374+377A>T
ENST00000262407.5:c.3060+72A>T	ENSP00000262407.5:n.3060+72A>T
ENST00000587295.5:c.253+1551A>T
ENST00000588098.1:c.37+377A>T
ENST00000592462.5:n.2831A>T
NM_000419.3:c.3060+72A>T , LRG_479t1:c.3060+72A>T	NP_000410.2:n.3060+72A>T
XM_011524749.1:c.2958+72A>T	XP_011523051.1:n.2958+72A>T
XM_011524750.1:c.2943+377A>T	XP_011523052.1:n.2943+377A>T
NM_000419.4:c.3060+72A>T	NP_000410.2:n.3060+72A>T
NM_000419.5:c.3060+72A>T MANE Select	NP_000410.2:n.3060+72A>T