Canonical Allele Identifier: CA353696941
Gene: CHMP2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87245807A>G , CM000665.2:g.87245807A>G GRCh38
NC_000003.11:g.87294957A>G , CM000665.1:g.87294957A>G GRCh37
NC_000003.10:g.87377647A>G NCBI36
NG_007885.1:g.23545A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263780.9:c.220A>G MANE Select ENSP00000263780.4:p.Arg74Gly
ENST00000472024.3:c.268A>G ENSP00000480032.2:p.Arg90Gly
ENST00000676705.1:c.268A>G ENSP00000504098.1:p.Arg90Gly
ENST00000676947.1:n.373A>G
ENST00000677929.1:n.458A>G
ENST00000678818.1:n.1063-608A>G
ENST00000678859.1:n.543A>G
ENST00000263780.8:c.220A>G ENSP00000263780.4:p.Arg74Gly
ENST00000471660.5:c.97A>G ENSP00000419998.1:p.Arg33Gly
ENST00000472024.2:c.268A>G ENSP00000480032.1:p.Arg90Gly
ENST00000494980.5:c.220A>G ENSP00000418920.1:p.Arg74Gly
NM_001244644.1:c.97A>G NP_001231573.1:p.Arg33Gly
NM_014043.3:c.220A>G NP_054762.2:p.Arg74Gly
XM_011533576.1:c.268A>G XP_011531878.1:p.Arg90Gly
XM_011533576.2:c.268A>G XP_011531878.1:p.Arg90Gly
NM_014043.4:c.220A>G MANE Select NP_054762.2:p.Arg74Gly
NM_001244644.2:c.97A>G NP_001231573.1:p.Arg33Gly