Canonical Allele Identifier: CA10575473
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2895
ClinVar RCV Id: RCV000003029 RCV001580163
dbSNP Id: rs879255509
MyVariant Identifiers: chr17:g.42457753C>T (hg19) chr17:g.44380385C>T (hg38)
ERepo: CA10575473/MONDO:0010119/011
PubMed: PMID:7620188 PMID:21487445
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44380385C>T , CM000679.2:g.44380385C>T GRCh38
NC_000017.10:g.42457753C>T , CM000679.1:g.42457753C>T GRCh37
NC_000017.9:g.39813279C>T NCBI36
NG_008331.1:g.14121G>A , LRG_479:g.14121G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262407.6:c.1544+1G>A MANE Select ENSP00000262407.5:n.1544+1G>A
ENST00000648408.1:c.975+1G>A
ENST00000262407.5:c.1544+1G>A ENSP00000262407.5:n.1544+1G>A
ENST00000592226.5:n.1017+1G>A
ENST00000592462.5:n.339+1G>A
NM_000419.3:c.1544+1G>A , LRG_479t1:c.1544+1G>A NP_000410.2:n.1544+1G>A
XM_011524749.1:c.1544+1G>A XP_011523051.1:n.1544+1G>A
XM_011524750.1:c.1544+1G>A XP_011523052.1:n.1544+1G>A
NM_000419.4:c.1544+1G>A NP_000410.2:n.1544+1G>A
NM_000419.5:c.1544+1G>A MANE Select NP_000410.2:n.1544+1G>A
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