Canonical Allele Identifier: CA16621022

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 419640
• ClinVar RCV Id: RCV000487060
• dbSNP Id: rs942375725
• MyVariant Identifiers: chr21:g.46308675C>T (hg19) ; chr21:g.44888760C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44888760C>T , CM000683.2:g.44888760C>T	GRCh38
NC_000021.8:g.46308675C>T , CM000683.1:g.46308675C>T	GRCh37
NC_000021.7:g.45133103C>T	NCBI36
NG_007270.2:g.45079G>A , LRG_76:g.45079G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1220G>A
ENST00000302347.10:c.2085G>A	ENSP00000303242.6:p.Trp695Ter
ENST00000652462.1:c.2013G>A MANE Select	ENSP00000498780.1:p.Trp671Ter
ENST00000302347.9:c.2013G>A	ENSP00000303242.5:p.Trp671Ter
ENST00000355153.8:c.2013G>A	ENSP00000347279.4:p.Trp671Ter
ENST00000397850.6:c.2013G>A	ENSP00000380948.2:p.Trp671Ter
ENST00000397852.5:c.2013G>A	ENSP00000380950.1:p.Trp671Ter
ENST00000397854.7:c.1842G>A	ENSP00000380952.3:p.Trp614Ter
ENST00000397857.5:c.2013G>A	ENSP00000380955.1:p.Trp671Ter
ENST00000475170.5:n.1413G>A
ENST00000479202.5:n.372G>A
ENST00000498666.5:n.4069G>A
ENST00000523323.5:c.*1840G>A	ENSP00000427732.1:n.*1840G>A
ENST00000610622.4:c.*704G>A	ENSP00000480700.1:n.*704G>A
NM_000211.4:c.2013G>A	NP_000202.3:p.Trp671Ter
NM_001127491.2:c.2013G>A	NP_001120963.2:p.Trp671Ter
NM_001303238.1:c.1806G>A	NP_001290167.1:p.Trp602Ter
XM_006724001.1:c.1806G>A	XP_006724064.1:p.Trp602Ter
XM_006724001.2:c.1806G>A	XP_006724064.1:p.Trp602Ter
NM_000211.5:c.2013G>A MANE Select	NP_000202.3:p.Trp671Ter
NM_001127491.3:c.2013G>A	NP_001120963.2:p.Trp671Ter
NM_001303238.2:c.1806G>A	NP_001290167.1:p.Trp602Ter