Canonical Allele Identifier: CA321890731

Gene: ITGB2

Linked Data

• dbSNP Id: rs760736955
• gnomAD v4: 21-44886714-A-AC
• MyVariant Identifiers: chr21:g.46306629_46306630insC (hg19) ; chr21:g.44886714_44886715insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44886719dup , CM000683.2:g.44886719dup	GRCh38
NC_000021.8:g.46306634dup , CM000683.1:g.46306634dup	GRCh37
NC_000021.7:g.45131062dup	NCBI36
NG_007270.2:g.47124dup , LRG_76:g.47124dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1454+21dup
ENST00000302347.10:c.2319+21dup	ENSP00000303242.6:n.2319+21dup
ENST00000652462.1:c.2247+21dup MANE Select	ENSP00000498780.1:n.2247+21dup
ENST00000302347.9:c.2247+21dup	ENSP00000303242.5:n.2247+21dup
ENST00000355153.8:c.2247+21dup	ENSP00000347279.4:n.2247+21dup
ENST00000397850.6:c.2247+21dup	ENSP00000380948.2:n.2247+21dup
ENST00000397852.5:c.2247+21dup	ENSP00000380950.1:n.2247+21dup
ENST00000397854.7:c.2076+21dup	ENSP00000380952.3:n.2076+21dup
ENST00000397857.5:c.2247+21dup	ENSP00000380955.1:n.2247+21dup
ENST00000475170.5:n.1647+21dup
ENST00000479202.5:n.606+21dup
ENST00000498666.5:n.4303+21dup
ENST00000523323.5:c.*2074+21dup	ENSP00000427732.1:n.*2074+21dup
ENST00000610622.4:c.*938+21dup	ENSP00000480700.1:n.*938+21dup
NM_000211.4:c.2247+21dup	NP_000202.3:n.2247+21dup
NM_001127491.2:c.2247+21dup	NP_001120963.2:n.2247+21dup
NM_001303238.1:c.2040+21dup	NP_001290167.1:n.2040+21dup
XM_006724001.1:c.2040+21dup	XP_006724064.1:n.2040+21dup
XM_006724001.2:c.2040+21dup	XP_006724064.1:n.2040+21dup
NM_000211.5:c.2247+21dup MANE Select	NP_000202.3:n.2247+21dup
NM_001127491.3:c.2247+21dup	NP_001120963.2:n.2247+21dup
NM_001303238.2:c.2040+21dup	NP_001290167.1:n.2040+21dup