Canonical Allele Identifier: CA434576506

Gene: CHMP2B

Linked Data

• MyVariant Identifiers: chr3:g.87294957A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87245807A>C , CM000665.2:g.87245807A>C	GRCh38
NC_000003.11:g.87294957A>C , CM000665.1:g.87294957A>C	GRCh37
NC_000003.10:g.87377647A>C	NCBI36
NG_007885.1:g.23545A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.220A>C MANE Select	ENSP00000263780.4:p.Arg74=
ENST00000472024.3:c.268A>C	ENSP00000480032.2:p.Arg90=
ENST00000676705.1:c.268A>C	ENSP00000504098.1:p.Arg90=
ENST00000676947.1:n.373A>C
ENST00000677929.1:n.458A>C
ENST00000678818.1:n.1063-608A>C
ENST00000678859.1:n.543A>C
ENST00000263780.8:c.220A>C	ENSP00000263780.4:p.Arg74=
ENST00000471660.5:c.97A>C	ENSP00000419998.1:p.Arg33=
ENST00000472024.2:c.268A>C	ENSP00000480032.1:p.Arg90=
ENST00000494980.5:c.220A>C	ENSP00000418920.1:p.Arg74=
NM_001244644.1:c.97A>C	NP_001231573.1:p.Arg33=
NM_014043.3:c.220A>C	NP_054762.2:p.Arg74=
XM_011533576.1:c.268A>C	XP_011531878.1:p.Arg90=
XM_011533576.2:c.268A>C	XP_011531878.1:p.Arg90=
NM_014043.4:c.220A>C MANE Select	NP_054762.2:p.Arg74=
NM_001244644.2:c.97A>C	NP_001231573.1:p.Arg33=