Canonical Allele Identifier: CA2500884

Gene: CHMP2B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87240728C>T , CM000665.2:g.87240728C>T	GRCh38
NC_000003.11:g.87289878C>T , CM000665.1:g.87289878C>T	GRCh37
NC_000003.10:g.87372568C>T	NCBI36
NG_007885.1:g.18466C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014043.4:c.64C>T MANE Select	NP_054762.2:p.Arg22Ter
ENST00000263780.9:c.64C>T MANE Select	ENSP00000263780.4:p.Arg22Ter
NM_001244644.1:c.4-4986C>T	NP_001231573.1:n.4-4986C>T
NM_001244644.2:c.4-4986C>T	NP_001231573.1:n.4-4986C>T
NM_014043.3:c.64C>T	NP_054762.2:p.Arg22Ter
ENST00000263780.8:c.64C>T	ENSP00000263780.4:p.Arg22Ter
ENST00000471660.5:c.4-4986C>T	ENSP00000419998.1:n.4-4986C>T
ENST00000472024.2:c.112C>T	ENSP00000480032.1:p.Arg38Ter
ENST00000472024.3:c.112C>T	ENSP00000480032.2:p.Arg38Ter
ENST00000494980.5:c.64C>T	ENSP00000418920.1:p.Arg22Ter
ENST00000676705.1:c.112C>T	ENSP00000504098.1:p.Arg38Ter
ENST00000676947.1:n.217C>T
ENST00000677929.1:n.302C>T
ENST00000678818.1:n.1062+275C>T
ENST00000678859.1:n.387C>T
XM_011533576.1:c.112C>T	XP_011531878.1:p.Arg38Ter
XM_011533576.2:c.112C>T	XP_011531878.1:p.Arg38Ter