Canonical Allele Identifier: CA10616740

Gene: CHMP2B

Linked Data

• ClinVar Variation Id: 346817
• ClinVar RCV Id: RCV000382637
• dbSNP Id: rs886058910
• gnomAD v3: 3-87254790-G-A
• gnomAD v4: 3-87254790-G-A
• MyVariant Identifiers: chr3:g.87303940G>A (hg19) ; chr3:g.87254790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87254790G>A , CM000665.2:g.87254790G>A	GRCh38
NC_000003.11:g.87303940G>A , CM000665.1:g.87303940G>A	GRCh37
NC_000003.10:g.87386630G>A	NCBI36
NG_007885.1:g.32528G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.*968G>A MANE Select	ENSP00000263780.4:n.*968G>A
ENST00000472024.3:c.*968G>A	ENSP00000480032.2:n.*968G>A
ENST00000676705.1:c.*968G>A	ENSP00000504098.1:n.*968G>A
ENST00000677929.1:n.5274G>A
ENST00000678859.1:n.5359G>A
ENST00000263780.8:c.*968G>A	ENSP00000263780.4:n.*968G>A
ENST00000471660.5:c.*968G>A	ENSP00000419998.1:n.*968G>A
NM_001244644.1:c.*968G>A	NP_001231573.1:n.*968G>A
NM_014043.3:c.*968G>A	NP_054762.2:n.*968G>A
XM_011533576.1:c.*968G>A	XP_011531878.1:n.*968G>A
XM_011533576.2:c.*968G>A	XP_011531878.1:n.*968G>A
NM_014043.4:c.*968G>A MANE Select	NP_054762.2:n.*968G>A
NM_001244644.2:c.*968G>A	NP_001231573.1:n.*968G>A