Canonical Allele Identifier: CA8602816
Gene: ITGA2B HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition Glanzmann's thrombasthenia
VCEP Platelet Disorders VCEP
MyVariant.info:
GRCh38 chr17:g.44377772A>G
GRCh37 chr17:g.42455140A>G
GRCh37 chr17:g.42455140_42455141delinsGG
Revel Score:
ENST00000262407 (MANE Select) 0.878
ENST00000353281 0.878
gnomAD v2:
17:42455140 A / G
gnomAD v3:
17:44377772 A / G
gnomAD v4:
chr17-44377772-A-G
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV001225296
RCV002254204
ClinVar Variation:
953058
dbSNP:
77961246
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44377772A>G , CM000679.2:g.44377772A>G GRCh38
NC_000017.10:g.42455140A>G , CM000679.1:g.42455140A>G GRCh37
NC_000017.9:g.39810666A>G NCBI36
NG_008331.1:g.16734T>C , LRG_479:g.16734T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2113T>C MANE Select ENSP00000262407.5:p.Cys705Arg
ENST00000648408.1:c.1544T>C
ENST00000262407.5:c.2113T>C ENSP00000262407.5:p.Cys705Arg
ENST00000592462.5:n.908T>C
NM_000419.3:c.2113T>C , LRG_479t1:c.2113T>C NP_000410.2:p.Cys705Arg
XM_011524749.1:c.2113T>C XP_011523051.1:p.Cys705Arg
XM_011524750.1:c.2113T>C XP_011523052.1:p.Cys705Arg
NM_000419.4:c.2113T>C NP_000410.2:p.Cys705Arg
NM_000419.5:c.2113T>C MANE Select NP_000410.2:p.Cys705Arg
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