Canonical Allele Identifier: CA772284415
Gene: ITGA2B HGNC NCBI

Linked Data

dbSNP Id: rs1262869372
gnomAD v3: 17-44372217-G-A
gnomAD v4: 17-44372217-G-A
MyVariant Identifiers: chr17:g.42449585G>A (hg19) chr17:g.44372217G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372217G>A , CM000679.2:g.44372217G>A GRCh38
NC_000017.10:g.42449585G>A , CM000679.1:g.42449585G>A GRCh37
NC_000017.9:g.39805111G>A NCBI36
NG_008331.1:g.22289C>T , LRG_479:g.22289C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.*147C>T MANE Select ENSP00000262407.5:n.*147C>T
ENST00000648408.1:c.2581C>T
ENST00000262407.5:c.*147C>T ENSP00000262407.5:n.*147C>T
ENST00000587295.5:c.460C>T
ENST00000588098.1:c.244C>T
NM_000419.3:c.*147C>T , LRG_479t1:c.*147C>T NP_000410.2:n.*147C>T
XM_011524749.1:c.*147C>T XP_011523051.1:n.*147C>T
XM_011524750.1:c.*147C>T XP_011523052.1:n.*147C>T
NM_000419.4:c.*147C>T NP_000410.2:n.*147C>T
NM_000419.5:c.*147C>T MANE Select NP_000410.2:n.*147C>T
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