Canonical Allele Identifier: CA2499225985
Community Standard Title: NM_000211.5(ITGB2):c.305_306del (p.Lys102SerfsTer?)
Gene: ITGB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44906940_44906941del , CM000683.2:g.44906940_44906941del GRCh38
NC_000021.8:g.46326855_46326856del , CM000683.1:g.46326855_46326856del GRCh37
NC_000021.7:g.45151283_45151284del NCBI36
NG_007270.2:g.26901_26902del , LRG_76:g.26901_26902del

Transcript Alleles

HGVS Amino-acid Change
NM_000211.5:c.305_306del MANE Select NP_000202.3:p.Lys102SerfsTer?
ENST00000652462.1:c.305_306del MANE Select ENSP00000498780.1:p.Lys102SerfsTer?
NM_000211.4:c.305_306del NP_000202.3:p.Lys102SerfsTer?
NM_001127491.2:c.305_306del NP_001120963.2:p.Lys102SerfsTer?
NM_001127491.3:c.305_306del NP_001120963.2:p.Lys102SerfsTer?
NM_001303238.1:c.98_99del NP_001290167.1:p.Lys33SerfsTer?
NM_001303238.2:c.98_99del NP_001290167.1:p.Lys33SerfsTer?
ENST00000302347.10:c.305_306del ENSP00000303242.6:p.Lys102SerfsTer?
ENST00000302347.9:c.305_306del ENSP00000303242.5:p.Lys102SerfsTer?
ENST00000320216.10:c.278_279del ENSP00000317697.6:p.Lys93SerfsTer?
ENST00000355153.8:c.305_306del ENSP00000347279.4:p.Lys102SerfsTer?
ENST00000397850.6:c.305_306del ENSP00000380948.2:p.Lys102SerfsTer?
ENST00000397852.5:c.305_306del ENSP00000380950.1:p.Lys102SerfsTer?
ENST00000397854.7:c.305_306del ENSP00000380952.3:p.Lys102SerfsTer26
ENST00000397857.5:c.305_306del ENSP00000380955.1:p.Lys102SerfsTer?
ENST00000498666.5:n.448_449del
ENST00000517563.5:c.305_306del ENSP00000428413.1:p.Lys102SerfsTer?
ENST00000520389.5:c.*132_*133del ENSP00000428434.1:n.*132_*133del
ENST00000521987.1:n.113-3403_113-3402del
ENST00000522688.5:c.98_99del ENSP00000428125.1:p.Lys33SerfsTer?
ENST00000522931.5:c.305_306del ENSP00000428979.1:p.Lys102SerfsTer?
ENST00000523323.5:c.*132_*133del ENSP00000427732.1:n.*132_*133del
ENST00000523663.5:c.305_306del ENSP00000428503.1:p.Lys102SerfsTer?
ENST00000524251.1:c.98_99del ENSP00000430901.1:p.Lys33SerfsTer?
ENST00000610622.4:c.305_306del ENSP00000480700.1:p.Lys102SerfsTer26
XM_006724001.1:c.98_99del XP_006724064.1:p.Lys33SerfsTer?
XM_006724001.2:c.98_99del XP_006724064.1:p.Lys33SerfsTer?