Canonical Allele Identifier: CA115837

Gene: ITGA2B

Linked Data

• ClinVar Variation Id: 2894
• ClinVar RCV Id: RCV000003028 ; RCV001580249
• dbSNP Id: rs137852907
• MyVariant Identifiers: chr17:g.42461935C>T (hg19) ; chr17:g.44384567C>T (hg38)
• ERepo: CA115837/MONDO:0010119/011 ; CA115837/MONDO:0100326/011
• PubMed: PMID:8282784

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44384567C>T , CM000679.2:g.44384567C>T	GRCh38
NC_000017.10:g.42461935C>T , CM000679.1:g.42461935C>T	GRCh37
NC_000017.9:g.39817461C>T	NCBI36
NG_008331.1:g.9939G>A , LRG_479:g.9939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.818G>A MANE Select	ENSP00000262407.5:p.Gly273Asp
ENST00000648408.1:c.249G>A
ENST00000262407.5:c.818G>A	ENSP00000262407.5:p.Gly273Asp
ENST00000589645.5:n.269G>A
ENST00000591990.5:n.180G>A
ENST00000592075.5:n.187G>A
ENST00000592226.5:n.58G>A
ENST00000592253.5:n.326G>A
ENST00000592944.1:n.500G>A
NM_000419.3:c.818G>A , LRG_479t1:c.818G>A	NP_000410.2:p.Gly273Asp
XM_011524749.1:c.818G>A	XP_011523051.1:p.Gly273Asp
XM_011524750.1:c.818G>A	XP_011523052.1:p.Gly273Asp
NM_000419.4:c.818G>A	NP_000410.2:p.Gly273Asp
NM_000419.5:c.818G>A MANE Select	NP_000410.2:p.Gly273Asp