Canonical Allele Identifier: CA2666628917

Gene: CHMP2B

Linked Data

• gnomAD v4: 3-87254408-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87254408G>T , CM000665.2:g.87254408G>T	GRCh38
NC_000003.11:g.87303558G>T , CM000665.1:g.87303558G>T	GRCh37
NC_000003.10:g.87386248G>T	NCBI36
NG_007885.1:g.32146G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.*586G>T MANE Select	ENSP00000263780.4:n.*586G>T
ENST00000472024.3:c.*586G>T	ENSP00000480032.2:n.*586G>T
ENST00000676705.1:c.*586G>T	ENSP00000504098.1:n.*586G>T
ENST00000677929.1:n.4892G>T
ENST00000678859.1:n.4977G>T
ENST00000263780.8:c.*586G>T	ENSP00000263780.4:n.*586G>T
ENST00000471660.5:c.*586G>T	ENSP00000419998.1:n.*586G>T
NM_001244644.1:c.*586G>T	NP_001231573.1:n.*586G>T
NM_014043.3:c.*586G>T	NP_054762.2:n.*586G>T
XM_011533576.1:c.*586G>T	XP_011531878.1:n.*586G>T
XM_011533576.2:c.*586G>T	XP_011531878.1:n.*586G>T
NM_014043.4:c.*586G>T MANE Select	NP_054762.2:n.*586G>T
NM_001244644.2:c.*586G>T	NP_001231573.1:n.*586G>T