Canonical Allele Identifier: CA115837
Gene: ITGA2B HGNC NCBI

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
PubMed: PMID:8282784
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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
Search 100 bp 5'
Search 100 bp 3'