Canonical Allele Identifier: CA2528247635

Gene: CHMP2B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253384C>T , CM000665.2:g.87253384C>T	GRCh38
NC_000003.11:g.87302534C>T , CM000665.1:g.87302534C>T	GRCh37
NC_000003.10:g.87385224C>T	NCBI36
NG_007885.1:g.31122C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.425-20C>T MANE Select	ENSP00000263780.4:n.425-20C>T
ENST00000472024.3:c.473-20C>T	ENSP00000480032.2:n.473-20C>T
ENST00000676705.1:c.473-20C>T	ENSP00000504098.1:n.473-20C>T
ENST00000677929.1:n.4069C>T
ENST00000678859.1:n.4154C>T
ENST00000263780.8:c.425-20C>T	ENSP00000263780.4:n.425-20C>T
ENST00000466696.1:n.336C>T
ENST00000471660.5:c.302-20C>T	ENSP00000419998.1:n.302-20C>T
ENST00000472024.2:c.473-20C>T	ENSP00000480032.1:n.473-20C>T
ENST00000494980.5:c.335-20C>T	ENSP00000418920.1:n.335-20C>T
NM_001244644.1:c.302-20C>T	NP_001231573.1:n.302-20C>T
NM_014043.3:c.425-20C>T	NP_054762.2:n.425-20C>T
XM_011533576.1:c.473-20C>T	XP_011531878.1:n.473-20C>T
XM_011533576.2:c.473-20C>T	XP_011531878.1:n.473-20C>T
NM_014043.4:c.425-20C>T MANE Select	NP_054762.2:n.425-20C>T
NM_001244644.2:c.302-20C>T	NP_001231573.1:n.302-20C>T