Canonical Allele Identifier: CA120449
Gene: ITGB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 9461
ClinVar RCV Id: RCV000010069
dbSNP Id: rs137852612
gnomAD v3: 21-44901728-C-T
gnomAD v4: 21-44901728-C-T
MyVariant Identifiers: chr21:g.46321643C>T (hg19) chr21:g.44901728C>T (hg38)
PubMed: PMID:1694220
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44901728C>T , CM000683.2:g.44901728C>T GRCh38
NC_000021.8:g.46321643C>T , CM000683.1:g.46321643C>T GRCh37
NC_000021.7:g.45146071C>T NCBI36
NG_007270.2:g.32111G>A , LRG_76:g.32111G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302347.10:c.505G>A ENSP00000303242.6:p.Gly169Arg
ENST00000652462.1:c.505G>A MANE Select ENSP00000498780.1:p.Gly169Arg
ENST00000302347.9:c.505G>A ENSP00000303242.5:p.Gly169Arg
ENST00000320216.10:c.478G>A ENSP00000317697.6:p.Gly160Arg
ENST00000355153.8:c.505G>A ENSP00000347279.4:p.Gly169Arg
ENST00000397850.6:c.505G>A ENSP00000380948.2:p.Gly169Arg
ENST00000397852.5:c.505G>A ENSP00000380950.1:p.Gly169Arg
ENST00000397854.7:c.334G>A ENSP00000380952.3:p.Gly112Arg
ENST00000397857.5:c.505G>A ENSP00000380955.1:p.Gly169Arg
ENST00000498666.5:n.648G>A
ENST00000521987.1:n.386G>A
ENST00000523323.5:c.*332G>A ENSP00000427732.1:n.*332G>A
ENST00000610622.4:c.334G>A ENSP00000480700.1:p.Gly112Arg
NM_000211.4:c.505G>A NP_000202.3:p.Gly169Arg
NM_001127491.2:c.505G>A NP_001120963.2:p.Gly169Arg
NM_001303238.1:c.298G>A NP_001290167.1:p.Gly100Arg
XM_006724001.1:c.298G>A XP_006724064.1:p.Gly100Arg
XM_006724001.2:c.298G>A XP_006724064.1:p.Gly100Arg
NM_000211.5:c.505G>A MANE Select NP_000202.3:p.Gly169Arg
NM_001127491.3:c.505G>A NP_001120963.2:p.Gly169Arg
NM_001303238.2:c.298G>A NP_001290167.1:p.Gly100Arg
Search 100 bp 5'
Search 100 bp 3'