Canonical Allele Identifier: CA2757122573

Gene: CHMP2B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87254317_87254327del , CM000665.2:g.87254317_87254327del	GRCh38
NC_000003.11:g.87303467_87303477del , CM000665.1:g.87303467_87303477del	GRCh37
NC_000003.10:g.87386157_87386167del	NCBI36
NG_007885.1:g.32055_32065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.*495_*505del MANE Select	ENSP00000263780.4:n.*495_*505del
ENST00000472024.3:c.*495_*505del	ENSP00000480032.2:n.*495_*505del
ENST00000676705.1:c.*495_*505del	ENSP00000504098.1:n.*495_*505del
ENST00000677929.1:n.4801_4811del
ENST00000678859.1:n.4886_4896del
ENST00000263780.8:c.*495_*505del	ENSP00000263780.4:n.*495_*505del
ENST00000471660.5:c.*495_*505del	ENSP00000419998.1:n.*495_*505del
NM_001244644.1:c.*495_*505del	NP_001231573.1:n.*495_*505del
NM_014043.3:c.*495_*505del	NP_054762.2:n.*495_*505del
XM_011533576.1:c.*495_*505del	XP_011531878.1:n.*495_*505del
XM_011533576.2:c.*495_*505del	XP_011531878.1:n.*495_*505del
NM_014043.4:c.*495_*505del MANE Select	NP_054762.2:n.*495_*505del
NM_001244644.2:c.*495_*505del	NP_001231573.1:n.*495_*505del