Canonical Allele Identifier: CA399787972
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1879037
ClinVar RCV Id: RCV002511538
gnomAD v4: 17-44372424-C-T
MyVariant Identifiers: chr17:g.42449792C>T (hg19) chr17:g.44372424C>T (hg38)
ERepo: CA399787972/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372424C>T , CM000679.2:g.44372424C>T GRCh38
NC_000017.10:g.42449792C>T , CM000679.1:g.42449792C>T GRCh37
NC_000017.9:g.39805318C>T NCBI36
NG_008331.1:g.22082G>A , LRG_479:g.22082G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.3061-1G>A MANE Select ENSP00000262407.5:n.3061-1G>A
ENST00000648408.1:c.2375-1G>A
ENST00000262407.5:c.3061-1G>A ENSP00000262407.5:n.3061-1G>A
ENST00000587295.5:c.254-1G>A
ENST00000588098.1:c.38-1G>A
NM_000419.3:c.3061-1G>A , LRG_479t1:c.3061-1G>A NP_000410.2:n.3061-1G>A
XM_011524749.1:c.2959-1G>A XP_011523051.1:n.2959-1G>A
XM_011524750.1:c.2944-1G>A XP_011523052.1:n.2944-1G>A
NM_000419.4:c.3061-1G>A NP_000410.2:n.3061-1G>A
NM_000419.5:c.3061-1G>A MANE Select NP_000410.2:n.3061-1G>A
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