Canonical Allele Identifier: CA290942967
Gene: ITGA2B HGNC NCBI

Linked Data

dbSNP Id: rs572371849
gnomAD v3: 17-44372531-A-C
gnomAD v4: 17-44372531-A-C
MyVariant Identifiers: chr17:g.42449899A>C (hg19) chr17:g.44372531A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372531A>C , CM000679.2:g.44372531A>C GRCh38
NC_000017.10:g.42449899A>C , CM000679.1:g.42449899A>C GRCh37
NC_000017.9:g.39805425A>C NCBI36
NG_008331.1:g.21975T>G , LRG_479:g.21975T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.3061-108T>G MANE Select ENSP00000262407.5:n.3061-108T>G
ENST00000648408.1:c.2375-108T>G
ENST00000262407.5:c.3061-108T>G ENSP00000262407.5:n.3061-108T>G
ENST00000587295.5:c.254-108T>G
ENST00000588098.1:c.38-108T>G
NM_000419.3:c.3061-108T>G , LRG_479t1:c.3061-108T>G NP_000410.2:n.3061-108T>G
XM_011524749.1:c.2959-108T>G XP_011523051.1:n.2959-108T>G
XM_011524750.1:c.2944-108T>G XP_011523052.1:n.2944-108T>G
NM_000419.4:c.3061-108T>G NP_000410.2:n.3061-108T>G
NM_000419.5:c.3061-108T>G MANE Select NP_000410.2:n.3061-108T>G
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