Canonical Allele Identifier: CA224968

Gene: CHMP2B

Linked Data

• ClinVar Variation Id: 98000
• ClinVar RCV Id: RCV000084272 ; RCV000252941 ; RCV000293185
• dbSNP Id: rs11540913
• ExAC: 3:87295049 T / C
• gnomAD v2: 3-87295049-T-C
• gnomAD v3: 3-87245899-T-C
• gnomAD v4: 3-87245899-T-C
• MyVariant Identifiers: chr3:g.87295049T>C (hg19) ; chr3:g.87245899T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87245899T>C , CM000665.2:g.87245899T>C	GRCh38
NC_000003.11:g.87295049T>C , CM000665.1:g.87295049T>C	GRCh37
NC_000003.10:g.87377739T>C	NCBI36
NG_007885.1:g.23637T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.312T>C MANE Select	ENSP00000263780.4:p.Thr104=
ENST00000472024.3:c.360T>C	ENSP00000480032.2:p.Thr120=
ENST00000676705.1:c.360T>C	ENSP00000504098.1:p.Thr120=
ENST00000676947.1:n.465T>C
ENST00000677929.1:n.550T>C
ENST00000678818.1:n.1063-516T>C
ENST00000678859.1:n.635T>C
ENST00000263780.8:c.312T>C	ENSP00000263780.4:p.Thr104=
ENST00000471660.5:c.189T>C	ENSP00000419998.1:p.Thr63=
ENST00000472024.2:c.360T>C	ENSP00000480032.1:p.Thr120=
ENST00000494980.5:c.231+81T>C	ENSP00000418920.1:n.231+81T>C
NM_001244644.1:c.189T>C	NP_001231573.1:p.Thr63=
NM_014043.3:c.312T>C	NP_054762.2:p.Thr104=
XM_011533576.1:c.360T>C	XP_011531878.1:p.Thr120=
XM_011533576.2:c.360T>C	XP_011531878.1:p.Thr120=
NM_014043.4:c.312T>C MANE Select	NP_054762.2:p.Thr104=
NM_001244644.2:c.189T>C	NP_001231573.1:p.Thr63=