Canonical Allele Identifier: CA8602498
Gene: ITGA2B HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Benign
Condition Glanzmann's thrombasthenia
VCEP Platelet Disorders VCEP
MyVariant.info:
GRCh38 chr17:g.44374449C>T
GRCh37 chr17:g.42451817C>T
Revel Score:
ENST00000262407 (MANE Select) 0.130
ENST00000353281 0.130
gnomAD v2:
17:42451817 C / T
gnomAD v3:
17:44374449 C / T
gnomAD v4:
chr17-44374449-C-T
Joint Max Group AF 0.01056777 (MID)
Genomes Max Group AF 0.00260412 (AMR)
Exomes Max Group AF 0.01079187 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374449C>T , CM000679.2:g.44374449C>T GRCh38
NC_000017.10:g.42451817C>T , CM000679.1:g.42451817C>T GRCh37
NC_000017.9:g.39807343C>T NCBI36
NG_008331.1:g.20057G>A , LRG_479:g.20057G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2965G>A MANE Select ENSP00000262407.5:p.Ala989Thr
ENST00000648408.1:c.2374+210G>A
ENST00000262407.5:c.2965G>A ENSP00000262407.5:p.Ala989Thr
ENST00000587295.5:c.253+1384G>A
ENST00000588098.1:c.37+210G>A
ENST00000592462.5:n.2664G>A
NM_000419.3:c.2965G>A , LRG_479t1:c.2965G>A NP_000410.2:p.Ala989Thr
XM_011524749.1:c.2863G>A XP_011523051.1:p.Ala955Thr
XM_011524750.1:c.2943+210G>A XP_011523052.1:n.2943+210G>A
NM_000419.4:c.2965G>A NP_000410.2:p.Ala989Thr
NM_000419.5:c.2965G>A MANE Select NP_000410.2:p.Ala989Thr
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