Canonical Allele Identifier: CA10575473

Gene: ITGA2B

Linked Data

• ClinVar Variation Id: 2895
• ClinVar RCV Id: RCV000003029 ; RCV001580163
• dbSNP Id: rs879255509
• MyVariant Identifiers: chr17:g.42457753C>T (hg19) ; chr17:g.44380385C>T (hg38)
• ERepo: CA10575473/MONDO:0010119/011
• PubMed: PMID:7620188 ; PMID:21487445

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44380385C>T , CM000679.2:g.44380385C>T	GRCh38
NC_000017.10:g.42457753C>T , CM000679.1:g.42457753C>T	GRCh37
NC_000017.9:g.39813279C>T	NCBI36
NG_008331.1:g.14121G>A , LRG_479:g.14121G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.1544+1G>A MANE Select	ENSP00000262407.5:n.1544+1G>A
ENST00000648408.1:c.975+1G>A
ENST00000262407.5:c.1544+1G>A	ENSP00000262407.5:n.1544+1G>A
ENST00000592226.5:n.1017+1G>A
ENST00000592462.5:n.339+1G>A
NM_000419.3:c.1544+1G>A , LRG_479t1:c.1544+1G>A	NP_000410.2:n.1544+1G>A
XM_011524749.1:c.1544+1G>A	XP_011523051.1:n.1544+1G>A
XM_011524750.1:c.1544+1G>A	XP_011523052.1:n.1544+1G>A
NM_000419.4:c.1544+1G>A	NP_000410.2:n.1544+1G>A
NM_000419.5:c.1544+1G>A MANE Select	NP_000410.2:n.1544+1G>A