Canonical Allele Identifier: CA10619663

Gene: CHMP2B

Linked Data

• ClinVar Variation Id: 346821
• ClinVar RCV Id: RCV000294918
• dbSNP Id: rs191203869
• gnomAD v2: 3-87304348-G-C
• gnomAD v3: 3-87255198-G-C
• gnomAD v4: 3-87255198-G-C
• MyVariant Identifiers: chr3:g.87304348G>C (hg19) ; chr3:g.87255198G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87255198G>C , CM000665.2:g.87255198G>C	GRCh38
NC_000003.11:g.87304348G>C , CM000665.1:g.87304348G>C	GRCh37
NC_000003.10:g.87387038G>C	NCBI36
NG_007885.1:g.32936G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.*1376G>C MANE Select	ENSP00000263780.4:n.*1376G>C
ENST00000472024.3:c.*1376G>C	ENSP00000480032.2:n.*1376G>C
ENST00000676705.1:c.*1376G>C	ENSP00000504098.1:n.*1376G>C
ENST00000677929.1:n.5682G>C
ENST00000678859.1:n.5767G>C
ENST00000263780.8:c.*1376G>C	ENSP00000263780.4:n.*1376G>C
ENST00000471660.5:c.*1376G>C	ENSP00000419998.1:n.*1376G>C
NM_001244644.1:c.*1376G>C	NP_001231573.1:n.*1376G>C
NM_014043.3:c.*1376G>C	NP_054762.2:n.*1376G>C
XM_011533576.1:c.*1376G>C	XP_011531878.1:n.*1376G>C
XM_011533576.2:c.*1376G>C	XP_011531878.1:n.*1376G>C
NM_014043.4:c.*1376G>C MANE Select	NP_054762.2:n.*1376G>C
NM_001244644.2:c.*1376G>C	NP_001231573.1:n.*1376G>C