Canonical Allele Identifier: CA434576504
Gene: CHMP2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.87294956G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87245806G>C , CM000665.2:g.87245806G>C GRCh38
NC_000003.11:g.87294956G>C , CM000665.1:g.87294956G>C GRCh37
NC_000003.10:g.87377646G>C NCBI36
NG_007885.1:g.23544G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263780.9:c.219G>C MANE Select ENSP00000263780.4:p.Thr73=
ENST00000472024.3:c.267G>C ENSP00000480032.2:p.Thr89=
ENST00000676705.1:c.267G>C ENSP00000504098.1:p.Thr89=
ENST00000676947.1:n.372G>C
ENST00000677929.1:n.457G>C
ENST00000678818.1:n.1063-609G>C
ENST00000678859.1:n.542G>C
ENST00000263780.8:c.219G>C ENSP00000263780.4:p.Thr73=
ENST00000471660.5:c.96G>C ENSP00000419998.1:p.Thr32=
ENST00000472024.2:c.267G>C ENSP00000480032.1:p.Thr89=
ENST00000494980.5:c.219G>C ENSP00000418920.1:p.Thr73=
NM_001244644.1:c.96G>C NP_001231573.1:p.Thr32=
NM_014043.3:c.219G>C NP_054762.2:p.Thr73=
XM_011533576.1:c.267G>C XP_011531878.1:p.Thr89=
XM_011533576.2:c.267G>C XP_011531878.1:p.Thr89=
NM_014043.4:c.219G>C MANE Select NP_054762.2:p.Thr73=
NM_001244644.2:c.96G>C NP_001231573.1:p.Thr32=