Canonical Allele Identifier: CA115844

Gene: ITGA2B

Linked Data

• ClinVar Variation Id: 2899
• ClinVar RCV Id: RCV000003033 ; RCV001580264
• dbSNP Id: rs137852910
• ExAC: 17:42461008 C / T
• gnomAD v2: 17-42461008-C-T
• gnomAD v3: 17-44383640-C-T
• gnomAD v4: 17-44383640-C-T
• COSMIC: COSM5417648 ; COSM5417649
• MyVariant Identifiers: chr17:g.42461008C>T (hg19) ; chr17:g.44383640C>T (hg38)
• ERepo: CA115844/MONDO:0010119/011
• PubMed: PMID:9734640

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44383640C>T , CM000679.2:g.44383640C>T	GRCh38
NC_000017.10:g.42461008C>T , CM000679.1:g.42461008C>T	GRCh37
NC_000017.9:g.39816534C>T	NCBI36
NG_008331.1:g.10866G>A , LRG_479:g.10866G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.1063G>A MANE Select	ENSP00000262407.5:p.Glu355Lys
ENST00000648408.1:c.494G>A
ENST00000262407.5:c.1063G>A	ENSP00000262407.5:p.Glu355Lys
ENST00000592226.5:n.303G>A
NM_000419.3:c.1063G>A , LRG_479t1:c.1063G>A	NP_000410.2:p.Glu355Lys
XM_011524749.1:c.1063G>A	XP_011523051.1:p.Glu355Lys
XM_011524750.1:c.1063G>A	XP_011523052.1:p.Glu355Lys
NM_000419.4:c.1063G>A	NP_000410.2:p.Glu355Lys
NM_000419.5:c.1063G>A MANE Select	NP_000410.2:p.Glu355Lys