Canonical Allele Identifier: CA8603163
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2218307
ClinVar RCV Id: RCV002687189
dbSNP Id: rs75998071
ExAC: 17:42458282 C / T
gnomAD v2: 17-42458282-C-T
gnomAD v4: 17-44380914-C-T
MyVariant Identifiers: chr17:g.42458282C>T (hg19) chr17:g.44380914C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44380914C>T , CM000679.2:g.44380914C>T GRCh38
NC_000017.10:g.42458282C>T , CM000679.1:g.42458282C>T GRCh37
NC_000017.9:g.39813808C>T NCBI36
NG_008331.1:g.13592G>A , LRG_479:g.13592G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262407.6:c.1358G>A MANE Select ENSP00000262407.5:p.Arg453Gln
ENST00000648408.1:c.789G>A
ENST00000262407.5:c.1358G>A ENSP00000262407.5:p.Arg453Gln
ENST00000592226.5:n.598G>A
ENST00000592462.5:n.153G>A
NM_000419.3:c.1358G>A , LRG_479t1:c.1358G>A NP_000410.2:p.Arg453Gln
XM_011524749.1:c.1358G>A XP_011523051.1:p.Arg453Gln
XM_011524750.1:c.1358G>A XP_011523052.1:p.Arg453Gln
NM_000419.4:c.1358G>A NP_000410.2:p.Arg453Gln
NM_000419.5:c.1358G>A MANE Select NP_000410.2:p.Arg453Gln
Search 100 bp 5'
Search 100 bp 3'