Canonical Allele Identifier: CA911557522

Gene: CHMP2B

Linked Data

• dbSNP Id: rs36098294
• gnomAD v3: 3-87227421-C-A
• gnomAD v4: 3-87227421-C-A
• MyVariant Identifiers: chr3:g.87276571C>A (hg19) ; chr3:g.87227421C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87227421C>A , CM000665.2:g.87227421C>A	GRCh38
NC_000003.11:g.87276571C>A , CM000665.1:g.87276571C>A	GRCh37
NC_000003.10:g.87359261C>A	NCBI36
NG_007885.1:g.5159C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.-102C>A MANE Select	ENSP00000263780.4:n.-102C>A
ENST00000472024.3:c.-185C>A	ENSP00000480032.2:n.-185C>A
ENST00000676705.1:c.-181C>A	ENSP00000504098.1:n.-181C>A
ENST00000676947.1:n.52C>A
ENST00000677929.1:n.137C>A
ENST00000678859.1:n.95C>A
ENST00000263780.8:c.-102C>A	ENSP00000263780.4:n.-102C>A
ENST00000471660.5:c.-133C>A	ENSP00000419998.1:n.-133C>A
ENST00000472024.2:c.-185C>A	ENSP00000480032.1:n.-185C>A
ENST00000494980.5:c.-102C>A	ENSP00000418920.1:n.-102C>A
NM_001244644.1:c.-133C>A	NP_001231573.1:n.-133C>A
NM_014043.3:c.-102C>A	NP_054762.2:n.-102C>A
NM_014043.4:c.-102C>A MANE Select	NP_054762.2:n.-102C>A
NM_001244644.2:c.-133C>A	NP_001231573.1:n.-133C>A