Canonical Allele Identifier: CA2500938

Gene: CHMP2B

Linked Data

• ClinVar Variation Id: 346806
• ClinVar RCV Id: RCV000390491 ; RCV000516998 ; RCV003401367
• dbSNP Id: rs192188850
• ExAC: 3:87294955 C / T
• gnomAD v2: 3-87294955-C-T
• gnomAD v3: 3-87245805-C-T
• gnomAD v4: 3-87245805-C-T
• MyVariant Identifiers: chr3:g.87294955C>T (hg19) ; chr3:g.87245805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87245805C>T , CM000665.2:g.87245805C>T	GRCh38
NC_000003.11:g.87294955C>T , CM000665.1:g.87294955C>T	GRCh37
NC_000003.10:g.87377645C>T	NCBI36
NG_007885.1:g.23543C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.218C>T MANE Select	ENSP00000263780.4:p.Thr73Met
ENST00000472024.3:c.266C>T	ENSP00000480032.2:p.Thr89Met
ENST00000676705.1:c.266C>T	ENSP00000504098.1:p.Thr89Met
ENST00000676947.1:n.371C>T
ENST00000677929.1:n.456C>T
ENST00000678818.1:n.1063-610C>T
ENST00000678859.1:n.541C>T
ENST00000263780.8:c.218C>T	ENSP00000263780.4:p.Thr73Met
ENST00000471660.5:c.95C>T	ENSP00000419998.1:p.Thr32Met
ENST00000472024.2:c.266C>T	ENSP00000480032.1:p.Thr89Met
ENST00000494980.5:c.218C>T	ENSP00000418920.1:p.Thr73Met
NM_001244644.1:c.95C>T	NP_001231573.1:p.Thr32Met
NM_014043.3:c.218C>T	NP_054762.2:p.Thr73Met
XM_011533576.1:c.266C>T	XP_011531878.1:p.Thr89Met
XM_011533576.2:c.266C>T	XP_011531878.1:p.Thr89Met
NM_014043.4:c.218C>T MANE Select	NP_054762.2:p.Thr73Met
NM_001244644.2:c.95C>T	NP_001231573.1:p.Thr32Met