Canonical Allele Identifier: CA2261364295
Gene: ITGA2B HGNC NCBI

Linked Data

dbSNP Id: rs1598374404
gnomAD v4: 17-44372258-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372258A>G , CM000679.2:g.44372258A>G GRCh38
NC_000017.10:g.42449626A>G , CM000679.1:g.42449626A>G GRCh37
NC_000017.9:g.39805152A>G NCBI36
NG_008331.1:g.22248T>C , LRG_479:g.22248T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.*106T>C MANE Select ENSP00000262407.5:n.*106T>C
ENST00000648408.1:c.2540T>C
ENST00000262407.5:c.*106T>C ENSP00000262407.5:n.*106T>C
ENST00000587295.5:c.419T>C
ENST00000588098.1:c.203T>C
NM_000419.3:c.*106T>C , LRG_479t1:c.*106T>C NP_000410.2:n.*106T>C
XM_011524749.1:c.*106T>C XP_011523051.1:n.*106T>C
XM_011524750.1:c.*106T>C XP_011523052.1:n.*106T>C
NM_000419.4:c.*106T>C NP_000410.2:n.*106T>C
NM_000419.5:c.*106T>C MANE Select NP_000410.2:n.*106T>C
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