Canonical Allele Identifier: CA434576503

Gene: CHMP2B

Linked Data

• ClinVar Variation Id: 2073689
• ClinVar RCV Id: RCV002972079
• MyVariant Identifiers: chr3:g.87294953G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87245803G>A , CM000665.2:g.87245803G>A	GRCh38
NC_000003.11:g.87294953G>A , CM000665.1:g.87294953G>A	GRCh37
NC_000003.10:g.87377643G>A	NCBI36
NG_007885.1:g.23541G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.216G>A MANE Select	ENSP00000263780.4:p.Lys72=
ENST00000472024.3:c.264G>A	ENSP00000480032.2:p.Lys88=
ENST00000676705.1:c.264G>A	ENSP00000504098.1:p.Lys88=
ENST00000676947.1:n.369G>A
ENST00000677929.1:n.454G>A
ENST00000678818.1:n.1063-612G>A
ENST00000678859.1:n.539G>A
ENST00000263780.8:c.216G>A	ENSP00000263780.4:p.Lys72=
ENST00000471660.5:c.93G>A	ENSP00000419998.1:p.Lys31=
ENST00000472024.2:c.264G>A	ENSP00000480032.1:p.Lys88=
ENST00000494980.5:c.216G>A	ENSP00000418920.1:p.Lys72=
NM_001244644.1:c.93G>A	NP_001231573.1:p.Lys31=
NM_014043.3:c.216G>A	NP_054762.2:p.Lys72=
XM_011533576.1:c.264G>A	XP_011531878.1:p.Lys88=
XM_011533576.2:c.264G>A	XP_011531878.1:p.Lys88=
NM_014043.4:c.216G>A MANE Select	NP_054762.2:p.Lys72=
NM_001244644.2:c.93G>A	NP_001231573.1:p.Lys31=