Canonical Allele Identifier: CA399804396
Gene: ITGA2B HGNC NCBI
ClinGen Evidence Repository:
Classification Uncertain Significance
Condition Glanzmann thrombasthenia
VCEP Platelet Disorders VCEP
MyVariant.info:
GRCh38 chr17:g.44383561G>A
GRCh37 chr17:g.42460929G>A
Revel Score:
ENST00000262407 (MANE Select) 0.361
ENST00000353281 0.361
ENST00000377068 0.361
ClinVar Allele:
1018299
ClinVar RCV:
RCV001332425
RCV001580225
ClinVar Variation:
1030779
dbSNP:
2048614738
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44383561G>A , CM000679.2:g.44383561G>A GRCh38
NC_000017.10:g.42460929G>A , CM000679.1:g.42460929G>A GRCh37
NC_000017.9:g.39816455G>A NCBI36
NG_008331.1:g.10945C>T , LRG_479:g.10945C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.1142C>T MANE Select ENSP00000262407.5:p.Thr381Ile
ENST00000648408.1:c.573C>T
ENST00000262407.5:c.1142C>T ENSP00000262407.5:p.Thr381Ile
ENST00000592226.5:n.382C>T
NM_000419.3:c.1142C>T , LRG_479t1:c.1142C>T NP_000410.2:p.Thr381Ile
XM_011524749.1:c.1142C>T XP_011523051.1:p.Thr381Ile
XM_011524750.1:c.1142C>T XP_011523052.1:p.Thr381Ile
NM_000419.4:c.1142C>T NP_000410.2:p.Thr381Ile
NM_000419.5:c.1142C>T MANE Select NP_000410.2:p.Thr381Ile
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