Canonical Allele Identifier: CA353696939

Gene: CHMP2B

Linked Data

• MyVariant Identifiers: chr3:g.87294955C>A (hg19) ; chr3:g.87245805C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87245805C>A , CM000665.2:g.87245805C>A	GRCh38
NC_000003.11:g.87294955C>A , CM000665.1:g.87294955C>A	GRCh37
NC_000003.10:g.87377645C>A	NCBI36
NG_007885.1:g.23543C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.218C>A MANE Select	ENSP00000263780.4:p.Thr73Lys
ENST00000472024.3:c.266C>A	ENSP00000480032.2:p.Thr89Lys
ENST00000676705.1:c.266C>A	ENSP00000504098.1:p.Thr89Lys
ENST00000676947.1:n.371C>A
ENST00000677929.1:n.456C>A
ENST00000678818.1:n.1063-610C>A
ENST00000678859.1:n.541C>A
ENST00000263780.8:c.218C>A	ENSP00000263780.4:p.Thr73Lys
ENST00000471660.5:c.95C>A	ENSP00000419998.1:p.Thr32Lys
ENST00000472024.2:c.266C>A	ENSP00000480032.1:p.Thr89Lys
ENST00000494980.5:c.218C>A	ENSP00000418920.1:p.Thr73Lys
NM_001244644.1:c.95C>A	NP_001231573.1:p.Thr32Lys
NM_014043.3:c.218C>A	NP_054762.2:p.Thr73Lys
XM_011533576.1:c.266C>A	XP_011531878.1:p.Thr89Lys
XM_011533576.2:c.266C>A	XP_011531878.1:p.Thr89Lys
NM_014043.4:c.218C>A MANE Select	NP_054762.2:p.Thr73Lys
NM_001244644.2:c.95C>A	NP_001231573.1:p.Thr32Lys