Canonical Allele Identifier: CA224977

Gene: CHMP2B

Linked Data

• ClinVar Variation Id: 98003
• ClinVar RCV Id: RCV000084277 ; RCV002055246
• dbSNP Id: rs63750652
• COSMIC: COSM4826909
• MyVariant Identifiers: chr3:g.87302861G>C (hg19) ; chr3:g.87253711G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253711G>C , CM000665.2:g.87253711G>C	GRCh38
NC_000003.11:g.87302861G>C , CM000665.1:g.87302861G>C	GRCh37
NC_000003.10:g.87385551G>C	NCBI36
NG_007885.1:g.31449G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.532-1G>C MANE Select	ENSP00000263780.4:n.532-1G>C
ENST00000472024.3:c.580-1G>C	ENSP00000480032.2:n.580-1G>C
ENST00000676705.1:c.580-1G>C	ENSP00000504098.1:n.580-1G>C
ENST00000677929.1:n.4196-1G>C
ENST00000678859.1:n.4281-1G>C
ENST00000263780.8:c.532-1G>C	ENSP00000263780.4:n.532-1G>C
ENST00000466696.1:n.463-1G>C
ENST00000471660.5:c.409-1G>C	ENSP00000419998.1:n.409-1G>C
ENST00000494980.5:c.442-1G>C	ENSP00000418920.1:n.442-1G>C
NM_001244644.1:c.409-1G>C	NP_001231573.1:n.409-1G>C
NM_014043.3:c.532-1G>C	NP_054762.2:n.532-1G>C
XM_011533576.1:c.580-1G>C	XP_011531878.1:n.580-1G>C
XM_011533576.2:c.580-1G>C	XP_011531878.1:n.580-1G>C
NM_014043.4:c.532-1G>C MANE Select	NP_054762.2:n.532-1G>C
NM_001244644.2:c.409-1G>C	NP_001231573.1:n.409-1G>C