Canonical Allele Identifier: CA2654864584

Gene: ITGB2

Linked Data

• gnomAD v4: 21-44886662-T-TCCTGCTGCGGGAGGCCGTGGACA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44886664_44886665insTGCTGCGGGAGGCCGTGGACACC , CM000683.2:g.44886664_44886665insTGCTGCGGGAGGCCGTGGACACC	GRCh38
NC_000021.8:g.46306579_46306580insTGCTGCGGGAGGCCGTGGACACC , CM000683.1:g.46306579_46306580insTGCTGCGGGAGGCCGTGGACACC	GRCh37
NC_000021.7:g.45131007_45131008insTGCTGCGGGAGGCCGTGGACACC	NCBI36
NG_007270.2:g.47176_47177insTGTCCACGGCCTCCCGCAGCAGG , LRG_76:g.47176_47177insTGTCCACGGCCTCCCGCAGCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1454+73_1454+74insTGTCCACGGCCTCCCGCAGCAGG
ENST00000302347.10:c.2319+73_2319+74insTGTCCACGGCCTCCCGCAGCAGG	ENSP00000303242.6:n.2319+73_2319+74insTGTCCACGGCCTCCCGCAGCAGG...
ENST00000652462.1:c.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG MANE Select	ENSP00000498780.1:n.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG...
ENST00000302347.9:c.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG	ENSP00000303242.5:n.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG...
ENST00000355153.8:c.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG	ENSP00000347279.4:n.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG...
ENST00000397850.6:c.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG	ENSP00000380948.2:n.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG...
ENST00000397852.5:c.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG	ENSP00000380950.1:n.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG...
ENST00000397854.7:c.2076+73_2076+74insTGTCCACGGCCTCCCGCAGCAGG	ENSP00000380952.3:n.2076+73_2076+74insTGTCCACGGCCTCCCGCAGCAGG...
ENST00000397857.5:c.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG	ENSP00000380955.1:n.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG...
ENST00000475170.5:n.1647+73_1647+74insTGTCCACGGCCTCCCGCAGCAGG
ENST00000479202.5:n.606+73_606+74insTGTCCACGGCCTCCCGCAGCAGG
ENST00000498666.5:n.4303+73_4303+74insTGTCCACGGCCTCCCGCAGCAGG
ENST00000523323.5:c.*2074+73_*2074+74insTGTCCACGGCCTCCCGCAGCAGG	ENSP00000427732.1:n.*2074+73_*2074+74insTGTCCACGGCCTCCCGCAGCA...
ENST00000610622.4:c.*938+73_*938+74insTGTCCACGGCCTCCCGCAGCAGG	ENSP00000480700.1:n.*938+73_*938+74insTGTCCACGGCCTCCCGCAGCAGG...
NM_000211.4:c.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG	NP_000202.3:n.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG
NM_001127491.2:c.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG	NP_001120963.2:n.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG
NM_001303238.1:c.2040+73_2040+74insTGTCCACGGCCTCCCGCAGCAGG	NP_001290167.1:n.2040+73_2040+74insTGTCCACGGCCTCCCGCAGCAGG
XM_006724001.1:c.2040+73_2040+74insTGTCCACGGCCTCCCGCAGCAGG	XP_006724064.1:n.2040+73_2040+74insTGTCCACGGCCTCCCGCAGCAGG
XM_006724001.2:c.2040+73_2040+74insTGTCCACGGCCTCCCGCAGCAGG	XP_006724064.1:n.2040+73_2040+74insTGTCCACGGCCTCCCGCAGCAGG
NM_000211.5:c.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG MANE Select	NP_000202.3:n.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG
NM_001127491.3:c.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG	NP_001120963.2:n.2247+73_2247+74insTGTCCACGGCCTCCCGCAGCAGG
NM_001303238.2:c.2040+73_2040+74insTGTCCACGGCCTCCCGCAGCAGG	NP_001290167.1:n.2040+73_2040+74insTGTCCACGGCCTCCCGCAGCAGG