Canonical Allele Identifier: CA353697508

Gene: CHMP2B

Linked Data

• MyVariant Identifiers: chr3:g.87302580G>C (hg19) ; chr3:g.87253430G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253430G>C , CM000665.2:g.87253430G>C	GRCh38
NC_000003.11:g.87302580G>C , CM000665.1:g.87302580G>C	GRCh37
NC_000003.10:g.87385270G>C	NCBI36
NG_007885.1:g.31168G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.451G>C MANE Select	ENSP00000263780.4:p.Asp151His
ENST00000472024.3:c.499G>C	ENSP00000480032.2:p.Asp167His
ENST00000676705.1:c.499G>C	ENSP00000504098.1:p.Asp167His
ENST00000677929.1:n.4115G>C
ENST00000678859.1:n.4200G>C
ENST00000263780.8:c.451G>C	ENSP00000263780.4:p.Asp151His
ENST00000466696.1:n.382G>C
ENST00000471660.5:c.328G>C	ENSP00000419998.1:p.Asp110His
ENST00000472024.2:c.499G>C	ENSP00000480032.1:p.Asp167His
ENST00000494980.5:c.361G>C	ENSP00000418920.1:p.Asp121His
NM_001244644.1:c.328G>C	NP_001231573.1:p.Asp110His
NM_014043.3:c.451G>C	NP_054762.2:p.Asp151His
XM_011533576.1:c.499G>C	XP_011531878.1:p.Asp167His
XM_011533576.2:c.499G>C	XP_011531878.1:p.Asp167His
NM_014043.4:c.451G>C MANE Select	NP_054762.2:p.Asp151His
NM_001244644.2:c.328G>C	NP_001231573.1:p.Asp110His