Canonical Allele Identifier: CA115834
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2892
ClinVar RCV Id: RCV000003026 RCV001580165
dbSNP Id: rs137852906
ExAC: 17:42457372 G / A
gnomAD v2: 17-42457372-G-A
gnomAD v4: 17-44380004-G-A
MyVariant Identifiers: chr17:g.42457372G>A (hg19) chr17:g.44380004G>A (hg38)
ERepo: CA115834/MONDO:0010119/011
PubMed: PMID:1317725
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44380004G>A , CM000679.2:g.44380004G>A GRCh38
NC_000017.10:g.42457372G>A , CM000679.1:g.42457372G>A GRCh37
NC_000017.9:g.39812898G>A NCBI36
NG_008331.1:g.14502C>T , LRG_479:g.14502C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.1750C>T MANE Select ENSP00000262407.5:p.Arg584Ter
ENST00000648408.1:c.1181C>T
ENST00000262407.5:c.1750C>T ENSP00000262407.5:p.Arg584Ter
ENST00000592462.5:n.545C>T
NM_000419.3:c.1750C>T , LRG_479t1:c.1750C>T NP_000410.2:p.Arg584Ter
XM_011524749.1:c.1750C>T XP_011523051.1:p.Arg584Ter
XM_011524750.1:c.1750C>T XP_011523052.1:p.Arg584Ter
NM_000419.4:c.1750C>T NP_000410.2:p.Arg584Ter
NM_000419.5:c.1750C>T MANE Select NP_000410.2:p.Arg584Ter
Search 100 bp 5'
Search 100 bp 3'