Canonical Allele Identifier: CA79035825

Gene: CHMP2B

Linked Data

• dbSNP Id: rs181525689
• gnomAD v2: 3-87303585-A-C
• gnomAD v3: 3-87254435-A-C
• gnomAD v4: 3-87254435-A-C
• MyVariant Identifiers: chr3:g.87303585A>C (hg19) ; chr3:g.87254435A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87254435A>C , CM000665.2:g.87254435A>C	GRCh38
NC_000003.11:g.87303585A>C , CM000665.1:g.87303585A>C	GRCh37
NC_000003.10:g.87386275A>C	NCBI36
NG_007885.1:g.32173A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.*613A>C MANE Select	ENSP00000263780.4:n.*613A>C
ENST00000472024.3:c.*613A>C	ENSP00000480032.2:n.*613A>C
ENST00000676705.1:c.*613A>C	ENSP00000504098.1:n.*613A>C
ENST00000677929.1:n.4919A>C
ENST00000678859.1:n.5004A>C
ENST00000263780.8:c.*613A>C	ENSP00000263780.4:n.*613A>C
ENST00000471660.5:c.*613A>C	ENSP00000419998.1:n.*613A>C
NM_001244644.1:c.*613A>C	NP_001231573.1:n.*613A>C
NM_014043.3:c.*613A>C	NP_054762.2:n.*613A>C
XM_011533576.1:c.*613A>C	XP_011531878.1:n.*613A>C
XM_011533576.2:c.*613A>C	XP_011531878.1:n.*613A>C
NM_014043.4:c.*613A>C MANE Select	NP_054762.2:n.*613A>C
NM_001244644.2:c.*613A>C	NP_001231573.1:n.*613A>C