Canonical Allele Identifier: CA353697511

Gene: CHMP2B

Linked Data

• gnomAD v4: 3-87253431-A-G
• MyVariant Identifiers: chr3:g.87302581A>G (hg19) ; chr3:g.87253431A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253431A>G , CM000665.2:g.87253431A>G	GRCh38
NC_000003.11:g.87302581A>G , CM000665.1:g.87302581A>G	GRCh37
NC_000003.10:g.87385271A>G	NCBI36
NG_007885.1:g.31169A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.452A>G MANE Select	ENSP00000263780.4:p.Asp151Gly
ENST00000472024.3:c.500A>G	ENSP00000480032.2:p.Asp167Gly
ENST00000676705.1:c.500A>G	ENSP00000504098.1:p.Asp167Gly
ENST00000677929.1:n.4116A>G
ENST00000678859.1:n.4201A>G
ENST00000263780.8:c.452A>G	ENSP00000263780.4:p.Asp151Gly
ENST00000466696.1:n.383A>G
ENST00000471660.5:c.329A>G	ENSP00000419998.1:p.Asp110Gly
ENST00000472024.2:c.500A>G	ENSP00000480032.1:p.Asp167Gly
ENST00000494980.5:c.362A>G	ENSP00000418920.1:p.Asp121Gly
NM_001244644.1:c.329A>G	NP_001231573.1:p.Asp110Gly
NM_014043.3:c.452A>G	NP_054762.2:p.Asp151Gly
XM_011533576.1:c.500A>G	XP_011531878.1:p.Asp167Gly
XM_011533576.2:c.500A>G	XP_011531878.1:p.Asp167Gly
NM_014043.4:c.452A>G MANE Select	NP_054762.2:p.Asp151Gly
NM_001244644.2:c.329A>G	NP_001231573.1:p.Asp110Gly