Canonical Allele Identifier: CA410476283

Gene: ITGB2

Linked Data

• dbSNP Id: rs137852610
• gnomAD v2: 21-46321561-T-C
• gnomAD v4: 21-44901646-T-C
• MyVariant Identifiers: chr21:g.46321561T>C (hg19) ; chr21:g.44901646T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44901646T>C , CM000683.2:g.44901646T>C	GRCh38
NC_000021.8:g.46321561T>C , CM000683.1:g.46321561T>C	GRCh37
NC_000021.7:g.45145989T>C	NCBI36
NG_007270.2:g.32193A>G , LRG_76:g.32193A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302347.10:c.587A>G	ENSP00000303242.6:p.Lys196Arg
ENST00000652462.1:c.587A>G MANE Select	ENSP00000498780.1:p.Lys196Arg
ENST00000302347.9:c.587A>G	ENSP00000303242.5:p.Lys196Arg
ENST00000320216.10:c.560A>G	ENSP00000317697.6:p.Lys187Arg
ENST00000355153.8:c.587A>G	ENSP00000347279.4:p.Lys196Arg
ENST00000397850.6:c.587A>G	ENSP00000380948.2:p.Lys196Arg
ENST00000397852.5:c.587A>G	ENSP00000380950.1:p.Lys196Arg
ENST00000397854.7:c.416A>G	ENSP00000380952.3:p.Lys139Arg
ENST00000397857.5:c.587A>G	ENSP00000380955.1:p.Lys196Arg
ENST00000498666.5:n.730A>G
ENST00000521987.1:n.468A>G
ENST00000523323.5:c.*414A>G	ENSP00000427732.1:n.*414A>G
ENST00000610622.4:c.416A>G	ENSP00000480700.1:p.Lys139Arg
NM_000211.4:c.587A>G	NP_000202.3:p.Lys196Arg
NM_001127491.2:c.587A>G	NP_001120963.2:p.Lys196Arg
NM_001303238.1:c.380A>G	NP_001290167.1:p.Lys127Arg
XM_006724001.1:c.380A>G	XP_006724064.1:p.Lys127Arg
XM_006724001.2:c.380A>G	XP_006724064.1:p.Lys127Arg
NM_000211.5:c.587A>G MANE Select	NP_000202.3:p.Lys196Arg
NM_001127491.3:c.587A>G	NP_001120963.2:p.Lys196Arg
NM_001303238.2:c.380A>G	NP_001290167.1:p.Lys127Arg