Canonical Allele Identifier: CA2654864602

Gene: ITGB2

Linked Data

• gnomAD v4: 21-44886746-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44886749del , CM000683.2:g.44886749del	GRCh38
NC_000021.8:g.46306664del , CM000683.1:g.46306664del	GRCh37
NC_000021.7:g.45131092del	NCBI36
NG_007270.2:g.47092del , LRG_76:g.47092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1443del
ENST00000302347.10:c.2308del	ENSP00000303242.6:p.Gln770SerfsTer17
ENST00000652462.1:c.2236del MANE Select	ENSP00000498780.1:p.Gln746SerfsTer17
ENST00000302347.9:c.2236del	ENSP00000303242.5:p.Gln746SerfsTer17
ENST00000355153.8:c.2236del	ENSP00000347279.4:p.Gln746SerfsTer17
ENST00000397850.6:c.2236del	ENSP00000380948.2:p.Gln746SerfsTer17
ENST00000397852.5:c.2236del	ENSP00000380950.1:p.Gln746SerfsTer17
ENST00000397854.7:c.2065del	ENSP00000380952.3:p.Gln689SerfsTer17
ENST00000397857.5:c.2236del	ENSP00000380955.1:p.Gln746SerfsTer17
ENST00000475170.5:n.1636del
ENST00000479202.5:n.595del
ENST00000498666.5:n.4292del
ENST00000523323.5:c.*2063del	ENSP00000427732.1:n.*2063del
ENST00000610622.4:c.*927del	ENSP00000480700.1:n.*927del
NM_000211.4:c.2236del	NP_000202.3:p.Gln746SerfsTer17
NM_001127491.2:c.2236del	NP_001120963.2:p.Gln746SerfsTer17
NM_001303238.1:c.2029del	NP_001290167.1:p.Gln677SerfsTer17
XM_006724001.1:c.2029del	XP_006724064.1:p.Gln677SerfsTer17
XM_006724001.2:c.2029del	XP_006724064.1:p.Gln677SerfsTer17
NM_000211.5:c.2236del MANE Select	NP_000202.3:p.Gln746SerfsTer17
NM_001127491.3:c.2236del	NP_001120963.2:p.Gln746SerfsTer17
NM_001303238.2:c.2029del	NP_001290167.1:p.Gln677SerfsTer17