Canonical Allele Identifier: CA410485624

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 1391033
• ClinVar RCV Id: RCV001891288 ; RCV002553595
• dbSNP Id: rs1342077214
• gnomAD v2: 21-46313324-C-T
• gnomAD v4: 21-44893409-C-T
• MyVariant Identifiers: chr21:g.46313324C>T (hg19) ; chr21:g.44893409C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44893409C>T , CM000683.2:g.44893409C>T	GRCh38
NC_000021.8:g.46313324C>T , CM000683.1:g.46313324C>T	GRCh37
NC_000021.7:g.45137752C>T	NCBI36
NG_007270.2:g.40430G>A , LRG_76:g.40430G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.1291G>A	ENSP00000303242.6:p.Val431Ile
ENST00000652462.1:c.1219G>A MANE Select	ENSP00000498780.1:p.Val407Ile
ENST00000302347.9:c.1219G>A	ENSP00000303242.5:p.Val407Ile
ENST00000355153.8:c.1219G>A	ENSP00000347279.4:p.Val407Ile
ENST00000397850.6:c.1219G>A	ENSP00000380948.2:p.Val407Ile
ENST00000397852.5:c.1219G>A	ENSP00000380950.1:p.Val407Ile
ENST00000397854.7:c.1048G>A	ENSP00000380952.3:p.Val350Ile
ENST00000397857.5:c.1219G>A	ENSP00000380955.1:p.Val407Ile
ENST00000475170.5:n.619G>A
ENST00000498666.5:n.2788G>A
ENST00000523323.5:c.*1046G>A	ENSP00000427732.1:n.*1046G>A
ENST00000610622.4:c.1048G>A	ENSP00000480700.1:p.Val350Ile
NM_000211.4:c.1219G>A	NP_000202.3:p.Val407Ile
NM_001127491.2:c.1219G>A	NP_001120963.2:p.Val407Ile
NM_001303238.1:c.1012G>A	NP_001290167.1:p.Val338Ile
XM_006724001.1:c.1012G>A	XP_006724064.1:p.Val338Ile
XM_006724001.2:c.1012G>A	XP_006724064.1:p.Val338Ile
NM_000211.5:c.1219G>A MANE Select	NP_000202.3:p.Val407Ile
NM_001127491.3:c.1219G>A	NP_001120963.2:p.Val407Ile
NM_001303238.2:c.1012G>A	NP_001290167.1:p.Val338Ile