Canonical Allele Identifier: CA353697507

Gene: CHMP2B

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.451G>A MANE Select	ENSP00000263780.4:p.Asp151Asn
ENST00000472024.3:c.499G>A	ENSP00000480032.2:p.Asp167Asn
ENST00000676705.1:c.499G>A	ENSP00000504098.1:p.Asp167Asn
ENST00000677929.1:n.4115G>A
ENST00000678859.1:n.4200G>A
ENST00000263780.8:c.451G>A	ENSP00000263780.4:p.Asp151Asn
ENST00000466696.1:n.382G>A
ENST00000471660.5:c.328G>A	ENSP00000419998.1:p.Asp110Asn
ENST00000472024.2:c.499G>A	ENSP00000480032.1:p.Asp167Asn
ENST00000494980.5:c.361G>A	ENSP00000418920.1:p.Asp121Asn
NM_001244644.1:c.328G>A	NP_001231573.1:p.Asp110Asn
NM_014043.3:c.451G>A	NP_054762.2:p.Asp151Asn
XM_011533576.1:c.499G>A	XP_011531878.1:p.Asp167Asn
XM_011533576.2:c.499G>A	XP_011531878.1:p.Asp167Asn
NM_014043.4:c.451G>A MANE Select	NP_054762.2:p.Asp151Asn
NM_001244644.2:c.328G>A	NP_001231573.1:p.Asp110Asn