Canonical Allele Identifier: CA2739267707
Community Standard Title: NM_000211.5(ITGB2):c.185del (p.Cys62SerfsTer9)
Gene: ITGB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44907058del , CM000683.2:g.44907058del GRCh38
NC_000021.8:g.46326973del , CM000683.1:g.46326973del GRCh37
NC_000021.7:g.45151401del NCBI36
NG_007270.2:g.26781del , LRG_76:g.26781del

Transcript Alleles

HGVS Amino-acid Change
NM_000211.5:c.185del MANE Select NP_000202.3:p.Cys62SerfsTer9
ENST00000652462.1:c.185del MANE Select ENSP00000498780.1:p.Cys62SerfsTer9
NM_000211.4:c.185del NP_000202.3:p.Cys62SerfsTer9
NM_001127491.2:c.185del NP_001120963.2:p.Cys62SerfsTer9
NM_001127491.3:c.185del NP_001120963.2:p.Cys62SerfsTer9
NM_001303238.1:c.-23del NP_001290167.1:n.-23del
NM_001303238.2:c.-23del NP_001290167.1:n.-23del
ENST00000302347.10:c.185del ENSP00000303242.6:p.Cys62SerfsTer9
ENST00000302347.9:c.185del ENSP00000303242.5:p.Cys62SerfsTer9
ENST00000320216.10:c.158del ENSP00000317697.6:p.Cys53SerfsTer9
ENST00000355153.8:c.185del ENSP00000347279.4:p.Cys62SerfsTer9
ENST00000397850.6:c.185del ENSP00000380948.2:p.Cys62SerfsTer9
ENST00000397852.5:c.185del ENSP00000380950.1:p.Cys62SerfsTer9
ENST00000397854.7:c.185del ENSP00000380952.3:p.Cys62SerfsTer9
ENST00000397857.5:c.185del ENSP00000380955.1:p.Cys62SerfsTer9
ENST00000498666.5:n.328del
ENST00000517563.5:c.185del ENSP00000428413.1:p.Cys62SerfsTer9
ENST00000517819.5:c.185del ENSP00000428870.1:p.Cys62SerfsTer9
ENST00000520389.5:c.*12del ENSP00000428434.1:n.*12del
ENST00000521987.1:n.113-3523del
ENST00000522688.5:c.-23del ENSP00000428125.1:n.-23del
ENST00000522931.5:c.185del ENSP00000428979.1:p.Cys62SerfsTer9
ENST00000523323.5:c.*12del ENSP00000427732.1:n.*12del
ENST00000523663.5:c.185del ENSP00000428503.1:p.Cys62SerfsTer9
ENST00000524251.1:c.-23del ENSP00000430901.1:n.-23del
ENST00000610622.4:c.185del ENSP00000480700.1:p.Cys62SerfsTer9
XM_006724001.1:c.-23del XP_006724064.1:n.-23del
XM_006724001.2:c.-23del XP_006724064.1:n.-23del