Canonical Allele Identifier: CA434577114

Gene: CHMP2B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253798A>G , CM000665.2:g.87253798A>G	GRCh38
NC_000003.11:g.87302948A>G , CM000665.1:g.87302948A>G	GRCh37
NC_000003.10:g.87385638A>G	NCBI36
NG_007885.1:g.31536A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014043.4:c.618A>G MANE Select	NP_054762.2:p.Gln206=
ENST00000263780.9:c.618A>G MANE Select	ENSP00000263780.4:p.Gln206=
NM_001244644.1:c.495A>G	NP_001231573.1:p.Gln165=
NM_001244644.2:c.495A>G	NP_001231573.1:p.Gln165=
NM_014043.3:c.618A>G	NP_054762.2:p.Gln206=
ENST00000263780.8:c.618A>G	ENSP00000263780.4:p.Gln206=
ENST00000466696.1:n.549A>G
ENST00000471660.5:c.495A>G	ENSP00000419998.1:p.Gln165=
ENST00000472024.3:c.666A>G	ENSP00000480032.2:p.Gln222=
ENST00000494980.5:c.528A>G	ENSP00000418920.1:p.Gln176=
ENST00000676705.1:c.666A>G	ENSP00000504098.1:p.Gln222=
ENST00000677929.1:n.4282A>G
ENST00000678859.1:n.4367A>G
XM_011533576.1:c.666A>G	XP_011531878.1:p.Gln222=
XM_011533576.2:c.666A>G	XP_011531878.1:p.Gln222=