Canonical Allele Identifier: CA2501043

Gene: CHMP2B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253793C>T , CM000665.2:g.87253793C>T	GRCh38
NC_000003.11:g.87302943C>T , CM000665.1:g.87302943C>T	GRCh37
NC_000003.10:g.87385633C>T	NCBI36
NG_007885.1:g.31531C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014043.4:c.613C>T MANE Select	NP_054762.2:p.Arg205Trp
ENST00000263780.9:c.613C>T MANE Select	ENSP00000263780.4:p.Arg205Trp
NM_001244644.1:c.490C>T	NP_001231573.1:p.Arg164Trp
NM_001244644.2:c.490C>T	NP_001231573.1:p.Arg164Trp
NM_014043.3:c.613C>T	NP_054762.2:p.Arg205Trp
ENST00000263780.8:c.613C>T	ENSP00000263780.4:p.Arg205Trp
ENST00000466696.1:n.544C>T
ENST00000471660.5:c.490C>T	ENSP00000419998.1:p.Arg164Trp
ENST00000472024.3:c.661C>T	ENSP00000480032.2:p.Arg221Trp
ENST00000494980.5:c.523C>T	ENSP00000418920.1:p.Arg175Trp
ENST00000676705.1:c.661C>T	ENSP00000504098.1:p.Arg221Trp
ENST00000677929.1:n.4277C>T
ENST00000678859.1:n.4362C>T
XM_011533576.1:c.661C>T	XP_011531878.1:p.Arg221Trp
XM_011533576.2:c.661C>T	XP_011531878.1:p.Arg221Trp