Canonical Allele Identifier: CA2666628911

Gene: CHMP2B

Linked Data

• gnomAD v4: 3-87254374-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87254374T>A , CM000665.2:g.87254374T>A	GRCh38
NC_000003.11:g.87303524T>A , CM000665.1:g.87303524T>A	GRCh37
NC_000003.10:g.87386214T>A	NCBI36
NG_007885.1:g.32112T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.*552T>A MANE Select	ENSP00000263780.4:n.*552T>A
ENST00000472024.3:c.*552T>A	ENSP00000480032.2:n.*552T>A
ENST00000676705.1:c.*552T>A	ENSP00000504098.1:n.*552T>A
ENST00000677929.1:n.4858T>A
ENST00000678859.1:n.4943T>A
ENST00000263780.8:c.*552T>A	ENSP00000263780.4:n.*552T>A
ENST00000471660.5:c.*552T>A	ENSP00000419998.1:n.*552T>A
NM_001244644.1:c.*552T>A	NP_001231573.1:n.*552T>A
NM_014043.3:c.*552T>A	NP_054762.2:n.*552T>A
XM_011533576.1:c.*552T>A	XP_011531878.1:n.*552T>A
XM_011533576.2:c.*552T>A	XP_011531878.1:n.*552T>A
NM_014043.4:c.*552T>A MANE Select	NP_054762.2:n.*552T>A
NM_001244644.2:c.*552T>A	NP_001231573.1:n.*552T>A