Canonical Allele Identifier: CA2500882

Gene: CHMP2B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87240720G>A , CM000665.2:g.87240720G>A	GRCh38
NC_000003.11:g.87289870G>A , CM000665.1:g.87289870G>A	GRCh37
NC_000003.10:g.87372560G>A	NCBI36
NG_007885.1:g.18458G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014043.4:c.56G>A MANE Select	NP_054762.2:p.Arg19Gln
ENST00000263780.9:c.56G>A MANE Select	ENSP00000263780.4:p.Arg19Gln
NM_001244644.1:c.4-4994G>A	NP_001231573.1:n.4-4994G>A
NM_001244644.2:c.4-4994G>A	NP_001231573.1:n.4-4994G>A
NM_014043.3:c.56G>A	NP_054762.2:p.Arg19Gln
ENST00000263780.8:c.56G>A	ENSP00000263780.4:p.Arg19Gln
ENST00000471660.5:c.4-4994G>A	ENSP00000419998.1:n.4-4994G>A
ENST00000472024.2:c.104G>A	ENSP00000480032.1:p.Arg35Gln
ENST00000472024.3:c.104G>A	ENSP00000480032.2:p.Arg35Gln
ENST00000494980.5:c.56G>A	ENSP00000418920.1:p.Arg19Gln
ENST00000676705.1:c.104G>A	ENSP00000504098.1:p.Arg35Gln
ENST00000676947.1:n.209G>A
ENST00000677929.1:n.294G>A
ENST00000678818.1:n.1062+267G>A
ENST00000678859.1:n.379G>A
XM_011533576.1:c.104G>A	XP_011531878.1:p.Arg35Gln
XM_011533576.2:c.104G>A	XP_011531878.1:p.Arg35Gln