Canonical Allele Identifier: CA749740126

Gene: ITGB2

Linked Data

• dbSNP Id: rs1255398278
• gnomAD v4: 21-44895140-CT-C
• MyVariant Identifiers: chr21:g.46315056del (hg19) ; chr21:g.44895141del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44895142del , CM000683.2:g.44895142del	GRCh38
NC_000021.8:g.46315057del , CM000683.1:g.46315057del	GRCh37
NC_000021.7:g.45139485del	NCBI36
NG_007270.2:g.38698del , LRG_76:g.38698del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.1066-81del	ENSP00000303242.6:n.1066-81del
ENST00000652462.1:c.994-81del MANE Select	ENSP00000498780.1:n.994-81del
ENST00000302347.9:c.994-81del	ENSP00000303242.5:n.994-81del
ENST00000355153.8:c.994-81del	ENSP00000347279.4:n.994-81del
ENST00000397850.6:c.994-81del	ENSP00000380948.2:n.994-81del
ENST00000397852.5:c.994-81del	ENSP00000380950.1:n.994-81del
ENST00000397854.7:c.823-81del	ENSP00000380952.3:n.823-81del
ENST00000397857.5:c.994-81del	ENSP00000380955.1:n.994-81del
ENST00000498666.5:n.1137-81del
ENST00000523323.5:c.*821-81del	ENSP00000427732.1:n.*821-81del
ENST00000610622.4:c.823-81del	ENSP00000480700.1:n.823-81del
NM_000211.4:c.994-81del	NP_000202.3:n.994-81del
NM_001127491.2:c.994-81del	NP_001120963.2:n.994-81del
NM_001303238.1:c.787-81del	NP_001290167.1:n.787-81del
XM_006724001.1:c.787-81del	XP_006724064.1:n.787-81del
XM_006724001.2:c.787-81del	XP_006724064.1:n.787-81del
NM_000211.5:c.994-81del MANE Select	NP_000202.3:n.994-81del
NM_001127491.3:c.994-81del	NP_001120963.2:n.994-81del
NM_001303238.2:c.787-81del	NP_001290167.1:n.787-81del