Canonical Allele Identifier: CA1050525527

Gene: CHMP2B

Linked Data

• dbSNP Id: rs909088119
• gnomAD v3: 3-87254411-C-T
• gnomAD v4: 3-87254411-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87254411C>T , CM000665.2:g.87254411C>T	GRCh38
NC_000003.11:g.87303561C>T , CM000665.1:g.87303561C>T	GRCh37
NC_000003.10:g.87386251C>T	NCBI36
NG_007885.1:g.32149C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.*589C>T MANE Select	ENSP00000263780.4:n.*589C>T
ENST00000472024.3:c.*589C>T	ENSP00000480032.2:n.*589C>T
ENST00000676705.1:c.*589C>T	ENSP00000504098.1:n.*589C>T
ENST00000677929.1:n.4895C>T
ENST00000678859.1:n.4980C>T
ENST00000263780.8:c.*589C>T	ENSP00000263780.4:n.*589C>T
ENST00000471660.5:c.*589C>T	ENSP00000419998.1:n.*589C>T
NM_001244644.1:c.*589C>T	NP_001231573.1:n.*589C>T
NM_014043.3:c.*589C>T	NP_054762.2:n.*589C>T
XM_011533576.1:c.*589C>T	XP_011531878.1:n.*589C>T
XM_011533576.2:c.*589C>T	XP_011531878.1:n.*589C>T
NM_014043.4:c.*589C>T MANE Select	NP_054762.2:n.*589C>T
NM_001244644.2:c.*589C>T	NP_001231573.1:n.*589C>T