Canonical Allele Identifier: CA115846

Gene: ITGA2B

Linked Data

• ClinVar Variation Id: 2900
• ClinVar RCV Id: RCV000003034 ; RCV001580160
• dbSNP Id: rs76811038
• ExAC: 17:42457148 A / G
• gnomAD v2: 17-42457148-A-G
• gnomAD v3: 17-44379780-A-G
• gnomAD v4: 17-44379780-A-G
• MyVariant Identifiers: chr17:g.42457148A>G (hg19) ; chr17:g.44379780A>G (hg38)
• ERepo: CA115846/MONDO:0010119/011 ; CA115846/MONDO:0100326/011
• PubMed: PMID:9734640

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44379780A>G , CM000679.2:g.44379780A>G	GRCh38
NC_000017.10:g.42457148A>G , CM000679.1:g.42457148A>G	GRCh37
NC_000017.9:g.39812674A>G	NCBI36
NG_008331.1:g.14726T>C , LRG_479:g.14726T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.1787T>C MANE Select	ENSP00000262407.5:p.Ile596Thr
ENST00000648408.1:c.1218T>C
ENST00000262407.5:c.1787T>C	ENSP00000262407.5:p.Ile596Thr
ENST00000592462.5:n.582T>C
NM_000419.3:c.1787T>C , LRG_479t1:c.1787T>C	NP_000410.2:p.Ile596Thr
XM_011524749.1:c.1787T>C	XP_011523051.1:p.Ile596Thr
XM_011524750.1:c.1787T>C	XP_011523052.1:p.Ile596Thr
NM_000419.4:c.1787T>C	NP_000410.2:p.Ile596Thr
NM_000419.5:c.1787T>C MANE Select	NP_000410.2:p.Ile596Thr