Canonical Allele Identifier: CA2500939

Gene: CHMP2B

Linked Data

• ClinVar Variation Id: 1668858
• ClinVar RCV Id: RCV002196117
• dbSNP Id: rs754433917
• ExAC: 3:87294956 G / A
• gnomAD v2: 3-87294956-G-A
• gnomAD v3: 3-87245806-G-A
• gnomAD v4: 3-87245806-G-A
• MyVariant Identifiers: chr3:g.87294956G>A (hg19) ; chr3:g.87245806G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87245806G>A , CM000665.2:g.87245806G>A	GRCh38
NC_000003.11:g.87294956G>A , CM000665.1:g.87294956G>A	GRCh37
NC_000003.10:g.87377646G>A	NCBI36
NG_007885.1:g.23544G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.219G>A MANE Select	ENSP00000263780.4:p.Thr73=
ENST00000472024.3:c.267G>A	ENSP00000480032.2:p.Thr89=
ENST00000676705.1:c.267G>A	ENSP00000504098.1:p.Thr89=
ENST00000676947.1:n.372G>A
ENST00000677929.1:n.457G>A
ENST00000678818.1:n.1063-609G>A
ENST00000678859.1:n.542G>A
ENST00000263780.8:c.219G>A	ENSP00000263780.4:p.Thr73=
ENST00000471660.5:c.96G>A	ENSP00000419998.1:p.Thr32=
ENST00000472024.2:c.267G>A	ENSP00000480032.1:p.Thr89=
ENST00000494980.5:c.219G>A	ENSP00000418920.1:p.Thr73=
NM_001244644.1:c.96G>A	NP_001231573.1:p.Thr32=
NM_014043.3:c.219G>A	NP_054762.2:p.Thr73=
XM_011533576.1:c.267G>A	XP_011531878.1:p.Thr89=
XM_011533576.2:c.267G>A	XP_011531878.1:p.Thr89=
NM_014043.4:c.219G>A MANE Select	NP_054762.2:p.Thr73=
NM_001244644.2:c.96G>A	NP_001231573.1:p.Thr32=