Canonical Allele Identifier: CA290948990
Gene: ITGA2B HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition Glanzmann's thrombasthenia
VCEP Platelet Disorders VCEP
gnomAD v2:
17:42456043 T / TA
gnomAD v3:
17:44378675 T / TA
gnomAD v4:
chr17-44378675-T-TA
Joint Max Group AF 6.9e-7 (NFE)
Exomes Max Group AF 3.1e-7 (NFE)
ClinVar RCV:
RCV001290500
ClinVar Variation:
996206
dbSNP:
75028796
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44378676dup , CM000679.2:g.44378676dup GRCh38
NC_000017.10:g.42456044dup , CM000679.1:g.42456044dup GRCh37
NC_000017.9:g.39811570dup NCBI36
NG_008331.1:g.15830dup , LRG_479:g.15830dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.1913dup MANE Select ENSP00000262407.5:p.Cys639MetfsTer22
ENST00000648408.1:c.1344dup
ENST00000262407.5:c.1913dup ENSP00000262407.5:p.Cys639MetfsTer22
ENST00000592462.5:n.708dup
NM_000419.3:c.1913dup , LRG_479t1:c.1913dup NP_000410.2:p.Cys639MetfsTer22
XM_011524749.1:c.1913dup XP_011523051.1:p.Cys639MetfsTer22
XM_011524750.1:c.1913dup XP_011523052.1:p.Cys639MetfsTer22
NM_000419.4:c.1913dup NP_000410.2:p.Cys639MetfsTer22
NM_000419.5:c.1913dup MANE Select NP_000410.2:p.Cys639MetfsTer22
Search 100 bp 5'
Search 100 bp 3'