Canonical Allele Identifier: CA115848
Gene: ITGA2B HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition Glanzmann's thrombasthenia
VCEP Platelet Disorders VCEP
MyVariant.info:
GRCh38 chr17:g.44385193A>G
GRCh37 chr17:g.42462561A>G
Revel Score:
ENST00000262407 (MANE Select) 0.798
ENST00000353281 0.798
gnomAD v3:
17:44385193 A / G
gnomAD v4:
chr17-44385193-A-G
Joint Max Group AF 6.8e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
ClinVar RCV:
RCV000003035
RCV001580159
ClinVar Variation:
2901
dbSNP:
137852911
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44385193A>G , CM000679.2:g.44385193A>G GRCh38
NC_000017.10:g.42462561A>G , CM000679.1:g.42462561A>G GRCh37
NC_000017.9:g.39818087A>G NCBI36
NG_008331.1:g.9313T>C , LRG_479:g.9313T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.641T>C MANE Select ENSP00000262407.5:p.Leu214Pro
ENST00000648408.1:c.72T>C
ENST00000262407.5:c.641T>C ENSP00000262407.5:p.Leu214Pro
ENST00000589645.5:n.92T>C
ENST00000591990.5:n.3T>C
ENST00000592075.5:n.10T>C
ENST00000592226.5:n.10T>C
ENST00000592253.5:n.149T>C
ENST00000592944.1:n.323T>C
NM_000419.3:c.641T>C , LRG_479t1:c.641T>C NP_000410.2:p.Leu214Pro
XM_011524749.1:c.641T>C XP_011523051.1:p.Leu214Pro
XM_011524750.1:c.641T>C XP_011523052.1:p.Leu214Pro
NM_000419.4:c.641T>C NP_000410.2:p.Leu214Pro
NM_000419.5:c.641T>C MANE Select NP_000410.2:p.Leu214Pro
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