Canonical Allele Identifier: CA915940530
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1691489
ClinVar RCV Id: RCV002254824
dbSNP Id: rs2143416246

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372199A>G , CM000679.2:g.44372199A>G GRCh38
NC_000017.10:g.42449567A>G , CM000679.1:g.42449567A>G GRCh37
NC_000017.9:g.39805093A>G NCBI36
NG_008331.1:g.22307T>C , LRG_479:g.22307T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.*165T>C MANE Select ENSP00000262407.5:n.*165T>C
ENST00000648408.1:c.2599T>C
ENST00000262407.5:c.*165T>C ENSP00000262407.5:n.*165T>C
ENST00000587295.5:c.478T>C
ENST00000588098.1:c.262T>C
NM_000419.3:c.*165T>C , LRG_479t1:c.*165T>C NP_000410.2:n.*165T>C
XM_011524749.1:c.*165T>C XP_011523051.1:n.*165T>C
XM_011524750.1:c.*165T>C XP_011523052.1:n.*165T>C
NM_000419.4:c.*165T>C NP_000410.2:n.*165T>C
NM_000419.5:c.*165T>C MANE Select NP_000410.2:n.*165T>C