Canonical Allele Identifier: CA115831
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2891
ClinVar RCV Id: RCV000003025 RCV000246752 RCV000288776 RCV001730470
dbSNP Id: rs5911
ExAC: 17:42453065 A / C
gnomAD v2: 17-42453065-A-C
gnomAD v3: 17-44375697-A-C
gnomAD v4: 17-44375697-A-C
MyVariant Identifiers: chr17:g.42453065A>C (hg19) chr17:g.44375697A>C (hg38)
PubMed: PMID:1926040 PMID:10582985
ERepo: CA115831/MONDO:0010119/011
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44375697A>C , CM000679.2:g.44375697A>C GRCh38
NC_000017.10:g.42453065A>C , CM000679.1:g.42453065A>C GRCh37
NC_000017.9:g.39808591A>C NCBI36
NG_008331.1:g.18809T>G , LRG_479:g.18809T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262407.6:c.2621T>G MANE Select ENSP00000262407.5:p.Ile874Ser
ENST00000648408.1:c.2052T>G
ENST00000262407.5:c.2621T>G ENSP00000262407.5:p.Ile874Ser
ENST00000587295.5:c.253+136T>G
ENST00000592462.5:n.1416T>G
NM_000419.3:c.2621T>G , LRG_479t1:c.2621T>G NP_000410.2:p.Ile874Ser
XM_011524749.1:c.2621T>G XP_011523051.1:p.Ile874Ser
XM_011524750.1:c.2621T>G XP_011523052.1:p.Ile874Ser
NM_000419.4:c.2621T>G NP_000410.2:p.Ile874Ser
NM_000419.5:c.2621T>G MANE Select NP_000410.2:p.Ile874Ser
Search 100 bp 5'
Search 100 bp 3'