Canonical Allele Identifier: CA79033025
Gene: CHMP2B HGNC NCBI

Linked Data

dbSNP Id: rs1002765
gnomAD v2: 3-87277062-G-C
gnomAD v3: 3-87227912-G-C
gnomAD v4: 3-87227912-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87227912G>C , CM000665.2:g.87227912G>C GRCh38
NC_000003.11:g.87277062G>C , CM000665.1:g.87277062G>C GRCh37
NC_000003.10:g.87359752G>C NCBI36
NG_007885.1:g.5650G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263780.9:c.34+356G>C MANE Select ENSP00000263780.4:n.34+356G>C
ENST00000472024.3:c.-50+356G>C ENSP00000480032.2:n.-50+356G>C
ENST00000676705.1:c.-46+356G>C ENSP00000504098.1:n.-46+356G>C
ENST00000676947.1:n.187+356G>C
ENST00000677929.1:n.272+356G>C
ENST00000678859.1:n.230+356G>C
ENST00000263780.8:c.34+356G>C ENSP00000263780.4:n.34+356G>C
ENST00000471660.5:c.3+356G>C ENSP00000419998.1:n.3+356G>C
ENST00000472024.2:c.-50+356G>C ENSP00000480032.1:n.-50+356G>C
ENST00000494980.5:c.34+356G>C ENSP00000418920.1:n.34+356G>C
NM_001244644.1:c.3+356G>C NP_001231573.1:n.3+356G>C
NM_014043.3:c.34+356G>C NP_054762.2:n.34+356G>C
NM_014043.4:c.34+356G>C MANE Select NP_054762.2:n.34+356G>C
NM_001244644.2:c.3+356G>C NP_001231573.1:n.3+356G>C