Canonical Allele Identifier: CA2666628920

Gene: CHMP2B

Linked Data

• gnomAD v4: 3-87254419-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87254420del , CM000665.2:g.87254420del	GRCh38
NC_000003.11:g.87303570del , CM000665.1:g.87303570del	GRCh37
NC_000003.10:g.87386260del	NCBI36
NG_007885.1:g.32158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.*598del MANE Select	ENSP00000263780.4:n.*598del
ENST00000472024.3:c.*598del	ENSP00000480032.2:n.*598del
ENST00000676705.1:c.*598del	ENSP00000504098.1:n.*598del
ENST00000677929.1:n.4904del
ENST00000678859.1:n.4989del
ENST00000263780.8:c.*598del	ENSP00000263780.4:n.*598del
ENST00000471660.5:c.*598del	ENSP00000419998.1:n.*598del
NM_001244644.1:c.*598del	NP_001231573.1:n.*598del
NM_014043.3:c.*598del	NP_054762.2:n.*598del
XM_011533576.1:c.*598del	XP_011531878.1:n.*598del
XM_011533576.2:c.*598del	XP_011531878.1:n.*598del
NM_014043.4:c.*598del MANE Select	NP_054762.2:n.*598del
NM_001244644.2:c.*598del	NP_001231573.1:n.*598del