Canonical Allele Identifier: CA353697515

Gene: CHMP2B

Linked Data

• MyVariant Identifiers: chr3:g.87302584G>C (hg19) ; chr3:g.87253434G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253434G>C , CM000665.2:g.87253434G>C	GRCh38
NC_000003.11:g.87302584G>C , CM000665.1:g.87302584G>C	GRCh37
NC_000003.10:g.87385274G>C	NCBI36
NG_007885.1:g.31172G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.455G>C MANE Select	ENSP00000263780.4:p.Gly152Ala
ENST00000472024.3:c.503G>C	ENSP00000480032.2:p.Gly168Ala
ENST00000676705.1:c.503G>C	ENSP00000504098.1:p.Gly168Ala
ENST00000677929.1:n.4119G>C
ENST00000678859.1:n.4204G>C
ENST00000263780.8:c.455G>C	ENSP00000263780.4:p.Gly152Ala
ENST00000466696.1:n.386G>C
ENST00000471660.5:c.332G>C	ENSP00000419998.1:p.Gly111Ala
ENST00000472024.2:c.503G>C	ENSP00000480032.1:p.Gly168Ala
ENST00000494980.5:c.365G>C	ENSP00000418920.1:p.Gly122Ala
NM_001244644.1:c.332G>C	NP_001231573.1:p.Gly111Ala
NM_014043.3:c.455G>C	NP_054762.2:p.Gly152Ala
XM_011533576.1:c.503G>C	XP_011531878.1:p.Gly168Ala
XM_011533576.2:c.503G>C	XP_011531878.1:p.Gly168Ala
NM_014043.4:c.455G>C MANE Select	NP_054762.2:p.Gly152Ala
NM_001244644.2:c.332G>C	NP_001231573.1:p.Gly111Ala