Canonical Allele Identifier: CA8603140

Gene: ITGA2B

Linked Data

• dbSNP Id: rs771962018
• ExAC: 17:42458201 C / T
• gnomAD v2: 17-42458201-C-T
• gnomAD v4: 17-44380833-C-T
• MyVariant Identifiers: chr17:g.42458201C>T (hg19) ; chr17:g.44380833C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44380833C>T , CM000679.2:g.44380833C>T	GRCh38
NC_000017.10:g.42458201C>T , CM000679.1:g.42458201C>T	GRCh37
NC_000017.9:g.39813727C>T	NCBI36
NG_008331.1:g.13673G>A , LRG_479:g.13673G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.1393+46G>A MANE Select	ENSP00000262407.5:n.1393+46G>A
ENST00000648408.1:c.824+46G>A
ENST00000262407.5:c.1393+46G>A	ENSP00000262407.5:n.1393+46G>A
ENST00000592226.5:n.679G>A
ENST00000592462.5:n.188+46G>A
NM_000419.3:c.1393+46G>A , LRG_479t1:c.1393+46G>A	NP_000410.2:n.1393+46G>A
XM_011524749.1:c.1393+46G>A	XP_011523051.1:n.1393+46G>A
XM_011524750.1:c.1393+46G>A	XP_011523052.1:n.1393+46G>A
NM_000419.4:c.1393+46G>A	NP_000410.2:n.1393+46G>A
NM_000419.5:c.1393+46G>A MANE Select	NP_000410.2:n.1393+46G>A