Canonical Allele Identifier: CA911557938
Gene: CHMP2B HGNC NCBI

Linked Data

dbSNP Id: rs1455715631

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87227840del , CM000665.2:g.87227840del GRCh38
NC_000003.11:g.87276990del , CM000665.1:g.87276990del GRCh37
NC_000003.10:g.87359680del NCBI36
NG_007885.1:g.5578del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263780.9:c.34+284del MANE Select ENSP00000263780.4:n.34+284del
ENST00000472024.3:c.-50+284del ENSP00000480032.2:n.-50+284del
ENST00000676705.1:c.-46+284del ENSP00000504098.1:n.-46+284del
ENST00000676947.1:n.187+284del
ENST00000677929.1:n.272+284del
ENST00000678859.1:n.230+284del
ENST00000263780.8:c.34+284del ENSP00000263780.4:n.34+284del
ENST00000471660.5:c.3+284del ENSP00000419998.1:n.3+284del
ENST00000472024.2:c.-50+284del ENSP00000480032.1:n.-50+284del
ENST00000494980.5:c.34+284del ENSP00000418920.1:n.34+284del
NM_001244644.1:c.3+284del NP_001231573.1:n.3+284del
NM_014043.3:c.34+284del NP_054762.2:n.34+284del
NM_014043.4:c.34+284del MANE Select NP_054762.2:n.34+284del
NM_001244644.2:c.3+284del NP_001231573.1:n.3+284del