Canonical Allele Identifier: CA658657322

Gene: CHMP2B

Linked Data

• ClinVar Variation Id: 447033
• ClinVar RCV Id: RCV000516453
• dbSNP Id: rs1186228412
• gnomAD v3: 3-87240690-T-G
• gnomAD v4: 3-87240690-T-G
• MyVariant Identifiers: chr3:g.87289840T>G (hg19) ; chr3:g.87240690T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87240690T>G , CM000665.2:g.87240690T>G	GRCh38
NC_000003.11:g.87289840T>G , CM000665.1:g.87289840T>G	GRCh37
NC_000003.10:g.87372530T>G	NCBI36
NG_007885.1:g.18428T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.35-9T>G MANE Select	ENSP00000263780.4:n.35-9T>G
ENST00000472024.3:c.83-9T>G	ENSP00000480032.2:n.83-9T>G
ENST00000676705.1:c.83-9T>G	ENSP00000504098.1:n.83-9T>G
ENST00000676947.1:n.188-9T>G
ENST00000677929.1:n.273-9T>G
ENST00000678818.1:n.1062+237T>G
ENST00000678859.1:n.358-9T>G
ENST00000263780.8:c.35-9T>G	ENSP00000263780.4:n.35-9T>G
ENST00000471660.5:c.4-5024T>G	ENSP00000419998.1:n.4-5024T>G
ENST00000472024.2:c.83-9T>G	ENSP00000480032.1:n.83-9T>G
ENST00000494980.5:c.35-9T>G	ENSP00000418920.1:n.35-9T>G
NM_001244644.1:c.4-5024T>G	NP_001231573.1:n.4-5024T>G
NM_014043.3:c.35-9T>G	NP_054762.2:n.35-9T>G
XM_011533576.1:c.83-9T>G	XP_011531878.1:n.83-9T>G
XM_011533576.2:c.83-9T>G	XP_011531878.1:n.83-9T>G
NM_014043.4:c.35-9T>G MANE Select	NP_054762.2:n.35-9T>G
NM_001244644.2:c.4-5024T>G	NP_001231573.1:n.4-5024T>G