Canonical Allele Identifier: CA229004
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 100811
ClinVar RCV Id: RCV000087169 RCV002510782
dbSNP Id: rs483352692
MyVariant Identifiers: chr17:g.42462317C>T (hg19) chr17:g.44384949C>T (hg38)
ERepo: CA229004/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44384949C>T , CM000679.2:g.44384949C>T GRCh38
NC_000017.10:g.42462317C>T , CM000679.1:g.42462317C>T GRCh37
NC_000017.9:g.39817843C>T NCBI36
NG_008331.1:g.9557G>A , LRG_479:g.9557G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.798G>A MANE Select ENSP00000262407.5:p.Trp266Ter
ENST00000648408.1:c.229G>A
ENST00000262407.5:c.798G>A ENSP00000262407.5:p.Trp266Ter
ENST00000589645.5:n.249G>A
ENST00000591990.5:n.160G>A
ENST00000592075.5:n.167G>A
ENST00000592226.5:n.39+215G>A
ENST00000592253.5:n.306G>A
ENST00000592944.1:n.480G>A
NM_000419.3:c.798G>A , LRG_479t1:c.798G>A NP_000410.2:p.Trp266Ter
XM_011524749.1:c.798G>A XP_011523051.1:p.Trp266Ter
XM_011524750.1:c.798G>A XP_011523052.1:p.Trp266Ter
NM_000419.4:c.798G>A NP_000410.2:p.Trp266Ter
NM_000419.5:c.798G>A MANE Select NP_000410.2:p.Trp266Ter
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