Canonical Allele Identifier: CA79033009

Gene: CHMP2B

Linked Data

• dbSNP Id: rs1048535038
• gnomAD v2: 3-87276976-G-C
• gnomAD v3: 3-87227826-G-C
• gnomAD v4: 3-87227826-G-C
• MyVariant Identifiers: chr3:g.87276976G>C (hg19) ; chr3:g.87227826G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87227826G>C , CM000665.2:g.87227826G>C	GRCh38
NC_000003.11:g.87276976G>C , CM000665.1:g.87276976G>C	GRCh37
NC_000003.10:g.87359666G>C	NCBI36
NG_007885.1:g.5564G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.34+270G>C MANE Select	ENSP00000263780.4:n.34+270G>C
ENST00000472024.3:c.-50+270G>C	ENSP00000480032.2:n.-50+270G>C
ENST00000676705.1:c.-46+270G>C	ENSP00000504098.1:n.-46+270G>C
ENST00000676947.1:n.187+270G>C
ENST00000677929.1:n.272+270G>C
ENST00000678859.1:n.230+270G>C
ENST00000263780.8:c.34+270G>C	ENSP00000263780.4:n.34+270G>C
ENST00000471660.5:c.3+270G>C	ENSP00000419998.1:n.3+270G>C
ENST00000472024.2:c.-50+270G>C	ENSP00000480032.1:n.-50+270G>C
ENST00000494980.5:c.34+270G>C	ENSP00000418920.1:n.34+270G>C
NM_001244644.1:c.3+270G>C	NP_001231573.1:n.3+270G>C
NM_014043.3:c.34+270G>C	NP_054762.2:n.34+270G>C
NM_014043.4:c.34+270G>C MANE Select	NP_054762.2:n.34+270G>C
NM_001244644.2:c.3+270G>C	NP_001231573.1:n.3+270G>C