Canonical Allele Identifier: CA16621024

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 419728
• ClinVar RCV Id: RCV000479245
• dbSNP Id: rs755600323
• MyVariant Identifiers: chr21:g.46318984C>A (hg19) ; chr21:g.44899069C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44899069C>A , CM000683.2:g.44899069C>A	GRCh38
NC_000021.8:g.46318984C>A , CM000683.1:g.46318984C>A	GRCh37
NC_000021.7:g.45143412C>A	NCBI36
NG_007270.2:g.34770G>T , LRG_76:g.34770G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.991G>T	ENSP00000303242.6:p.Glu331Ter
ENST00000652462.1:c.991G>T MANE Select	ENSP00000498780.1:p.Glu331Ter
ENST00000302347.9:c.991G>T	ENSP00000303242.5:p.Glu331Ter
ENST00000320216.10:c.964G>T	ENSP00000317697.6:p.Glu322Ter
ENST00000355153.8:c.991G>T	ENSP00000347279.4:p.Glu331Ter
ENST00000397850.6:c.991G>T	ENSP00000380948.2:p.Glu331Ter
ENST00000397852.5:c.991G>T	ENSP00000380950.1:p.Glu331Ter
ENST00000397854.7:c.820G>T	ENSP00000380952.3:p.Glu274Ter
ENST00000397857.5:c.991G>T	ENSP00000380955.1:p.Glu331Ter
ENST00000498666.5:n.1134G>T
ENST00000523323.5:c.*818G>T	ENSP00000427732.1:n.*818G>T
ENST00000610622.4:c.820G>T	ENSP00000480700.1:p.Glu274Ter
NM_000211.4:c.991G>T	NP_000202.3:p.Glu331Ter
NM_001127491.2:c.991G>T	NP_001120963.2:p.Glu331Ter
NM_001303238.1:c.784G>T	NP_001290167.1:p.Glu262Ter
XM_006724001.1:c.784G>T	XP_006724064.1:p.Glu262Ter
XM_006724001.2:c.784G>T	XP_006724064.1:p.Glu262Ter
NM_000211.5:c.991G>T MANE Select	NP_000202.3:p.Glu331Ter
NM_001127491.3:c.991G>T	NP_001120963.2:p.Glu331Ter
NM_001303238.2:c.784G>T	NP_001290167.1:p.Glu262Ter