Canonical Allele Identifier: CA353696953

Gene: CHMP2B

Linked Data

• MyVariant Identifiers: chr3:g.87294961C>T (hg19) ; chr3:g.87245811C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87245811C>T , CM000665.2:g.87245811C>T	GRCh38
NC_000003.11:g.87294961C>T , CM000665.1:g.87294961C>T	GRCh37
NC_000003.10:g.87377651C>T	NCBI36
NG_007885.1:g.23549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.224C>T MANE Select	ENSP00000263780.4:p.Thr75Ile
ENST00000472024.3:c.272C>T	ENSP00000480032.2:p.Thr91Ile
ENST00000676705.1:c.272C>T	ENSP00000504098.1:p.Thr91Ile
ENST00000676947.1:n.377C>T
ENST00000677929.1:n.462C>T
ENST00000678818.1:n.1063-604C>T
ENST00000678859.1:n.547C>T
ENST00000263780.8:c.224C>T	ENSP00000263780.4:p.Thr75Ile
ENST00000471660.5:c.101C>T	ENSP00000419998.1:p.Thr34Ile
ENST00000472024.2:c.272C>T	ENSP00000480032.1:p.Thr91Ile
ENST00000494980.5:c.224C>T	ENSP00000418920.1:p.Thr75Ile
NM_001244644.1:c.101C>T	NP_001231573.1:p.Thr34Ile
NM_014043.3:c.224C>T	NP_054762.2:p.Thr75Ile
XM_011533576.1:c.272C>T	XP_011531878.1:p.Thr91Ile
XM_011533576.2:c.272C>T	XP_011531878.1:p.Thr91Ile
NM_014043.4:c.224C>T MANE Select	NP_054762.2:p.Thr75Ile
NM_001244644.2:c.101C>T	NP_001231573.1:p.Thr34Ile