Canonical Allele Identifier: CA79035818

Gene: CHMP2B

Linked Data

• dbSNP Id: rs948704485
• gnomAD v3: 3-87254333-T-C
• gnomAD v4: 3-87254333-T-C
• MyVariant Identifiers: chr3:g.87303483T>C (hg19) ; chr3:g.87254333T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87254333T>C , CM000665.2:g.87254333T>C	GRCh38
NC_000003.11:g.87303483T>C , CM000665.1:g.87303483T>C	GRCh37
NC_000003.10:g.87386173T>C	NCBI36
NG_007885.1:g.32071T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.*511T>C MANE Select	ENSP00000263780.4:n.*511T>C
ENST00000472024.3:c.*511T>C	ENSP00000480032.2:n.*511T>C
ENST00000676705.1:c.*511T>C	ENSP00000504098.1:n.*511T>C
ENST00000677929.1:n.4817T>C
ENST00000678859.1:n.4902T>C
ENST00000263780.8:c.*511T>C	ENSP00000263780.4:n.*511T>C
ENST00000471660.5:c.*511T>C	ENSP00000419998.1:n.*511T>C
NM_001244644.1:c.*511T>C	NP_001231573.1:n.*511T>C
NM_014043.3:c.*511T>C	NP_054762.2:n.*511T>C
XM_011533576.1:c.*511T>C	XP_011531878.1:n.*511T>C
XM_011533576.2:c.*511T>C	XP_011531878.1:n.*511T>C
NM_014043.4:c.*511T>C MANE Select	NP_054762.2:n.*511T>C
NM_001244644.2:c.*511T>C	NP_001231573.1:n.*511T>C