Canonical Allele Identifier: CA2500934

Gene: CHMP2B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87245793G>A , CM000665.2:g.87245793G>A	GRCh38
NC_000003.11:g.87294943G>A , CM000665.1:g.87294943G>A	GRCh37
NC_000003.10:g.87377633G>A	NCBI36
NG_007885.1:g.23531G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014043.4:c.206G>A MANE Select	NP_054762.2:p.Arg69Gln
ENST00000263780.9:c.206G>A MANE Select	ENSP00000263780.4:p.Arg69Gln
NM_001244644.1:c.83G>A	NP_001231573.1:p.Arg28Gln
NM_001244644.2:c.83G>A	NP_001231573.1:p.Arg28Gln
NM_014043.3:c.206G>A	NP_054762.2:p.Arg69Gln
ENST00000263780.8:c.206G>A	ENSP00000263780.4:p.Arg69Gln
ENST00000471660.5:c.83G>A	ENSP00000419998.1:p.Arg28Gln
ENST00000472024.2:c.254G>A	ENSP00000480032.1:p.Arg85Gln
ENST00000472024.3:c.254G>A	ENSP00000480032.2:p.Arg85Gln
ENST00000494980.5:c.206G>A	ENSP00000418920.1:p.Arg69Gln
ENST00000676705.1:c.254G>A	ENSP00000504098.1:p.Arg85Gln
ENST00000676947.1:n.359G>A
ENST00000677929.1:n.444G>A
ENST00000678818.1:n.1063-622G>A
ENST00000678859.1:n.529G>A
XM_011533576.1:c.254G>A	XP_011531878.1:p.Arg85Gln
XM_011533576.2:c.254G>A	XP_011531878.1:p.Arg85Gln