Canonical Allele Identifier: CA11412796

Gene: CHMP2B

Linked Data

• dbSNP Id: rs1002765
• gnomAD v2: 3-87277062-G-A
• gnomAD v3: 3-87227912-G-A
• gnomAD v4: 3-87227912-G-A
• MyVariant Identifiers: chr3:g.87277062G>A (hg19) ; chr3:g.87227912G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87227912G>A , CM000665.2:g.87227912G>A	GRCh38
NC_000003.11:g.87277062G>A , CM000665.1:g.87277062G>A	GRCh37
NC_000003.10:g.87359752G>A	NCBI36
NG_007885.1:g.5650G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.34+356G>A MANE Select	ENSP00000263780.4:n.34+356G>A
ENST00000472024.3:c.-50+356G>A	ENSP00000480032.2:n.-50+356G>A
ENST00000676705.1:c.-46+356G>A	ENSP00000504098.1:n.-46+356G>A
ENST00000676947.1:n.187+356G>A
ENST00000677929.1:n.272+356G>A
ENST00000678859.1:n.230+356G>A
ENST00000263780.8:c.34+356G>A	ENSP00000263780.4:n.34+356G>A
ENST00000471660.5:c.3+356G>A	ENSP00000419998.1:n.3+356G>A
ENST00000472024.2:c.-50+356G>A	ENSP00000480032.1:n.-50+356G>A
ENST00000494980.5:c.34+356G>A	ENSP00000418920.1:n.34+356G>A
NM_001244644.1:c.3+356G>A	NP_001231573.1:n.3+356G>A
NM_014043.3:c.34+356G>A	NP_054762.2:n.34+356G>A
NM_014043.4:c.34+356G>A MANE Select	NP_054762.2:n.34+356G>A
NM_001244644.2:c.3+356G>A	NP_001231573.1:n.3+356G>A