Canonical Allele Identifier: CA290950815
Gene: ITGA2B HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition Glanzmann's thrombasthenia
VCEP Platelet Disorders VCEP
MyVariant.info:
GRCh38 chr17:g.44381058A>G
GRCh37 chr17:g.42458426A>G
Revel Score:
ENST00000262407 (MANE Select) 0.573
ENST00000353281 0.573
ENST00000377068 0.573
gnomAD v4:
chr17-44381058-A-G
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV001225235
RCV002280899
ClinVar Variation:
953004
dbSNP:
75622274
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44381058A>G , CM000679.2:g.44381058A>G GRCh38
NC_000017.10:g.42458426A>G , CM000679.1:g.42458426A>G GRCh37
NC_000017.9:g.39813952A>G NCBI36
NG_008331.1:g.13448T>C , LRG_479:g.13448T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.1214T>C MANE Select ENSP00000262407.5:p.Ile405Thr
ENST00000648408.1:c.645T>C
ENST00000262407.5:c.1214T>C ENSP00000262407.5:p.Ile405Thr
ENST00000592226.5:n.454T>C
ENST00000592462.5:n.9T>C
NM_000419.3:c.1214T>C , LRG_479t1:c.1214T>C NP_000410.2:p.Ile405Thr
XM_011524749.1:c.1214T>C XP_011523051.1:p.Ile405Thr
XM_011524750.1:c.1214T>C XP_011523052.1:p.Ile405Thr
NM_000419.4:c.1214T>C NP_000410.2:p.Ile405Thr
NM_000419.5:c.1214T>C MANE Select NP_000410.2:p.Ile405Thr
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