Canonical Allele Identifier: CA10617531

Gene: CHMP2B

Linked Data

• ClinVar Variation Id: 346812
• ClinVar RCV Id: RCV000264562
• dbSNP Id: rs886058908
• MyVariant Identifiers: chr3:g.87303574T>G (hg19) ; chr3:g.87254424T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87254424T>G , CM000665.2:g.87254424T>G	GRCh38
NC_000003.11:g.87303574T>G , CM000665.1:g.87303574T>G	GRCh37
NC_000003.10:g.87386264T>G	NCBI36
NG_007885.1:g.32162T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.*602T>G MANE Select	ENSP00000263780.4:n.*602T>G
ENST00000472024.3:c.*602T>G	ENSP00000480032.2:n.*602T>G
ENST00000676705.1:c.*602T>G	ENSP00000504098.1:n.*602T>G
ENST00000677929.1:n.4908T>G
ENST00000678859.1:n.4993T>G
ENST00000263780.8:c.*602T>G	ENSP00000263780.4:n.*602T>G
ENST00000471660.5:c.*602T>G	ENSP00000419998.1:n.*602T>G
NM_001244644.1:c.*602T>G	NP_001231573.1:n.*602T>G
NM_014043.3:c.*602T>G	NP_054762.2:n.*602T>G
XM_011533576.1:c.*602T>G	XP_011531878.1:n.*602T>G
XM_011533576.2:c.*602T>G	XP_011531878.1:n.*602T>G
NM_014043.4:c.*602T>G MANE Select	NP_054762.2:n.*602T>G
NM_001244644.2:c.*602T>G	NP_001231573.1:n.*602T>G