Canonical Allele Identifier: CA1381535128

Gene: CHMP2B

Linked Data

• dbSNP Id: rs1705825357

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87227331T>G , CM000665.2:g.87227331T>G	GRCh38
NC_000003.11:g.87276481T>G , CM000665.1:g.87276481T>G	GRCh37
NC_000003.10:g.87359171T>G	NCBI36
NG_007885.1:g.5069T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.-192T>G MANE Select	ENSP00000263780.4:n.-192T>G
ENST00000472024.3:c.-275T>G	ENSP00000480032.2:n.-275T>G
ENST00000676705.1:c.-271T>G	ENSP00000504098.1:n.-271T>G
ENST00000677929.1:n.47T>G
ENST00000678859.1:n.5T>G
ENST00000263780.8:c.-192T>G	ENSP00000263780.4:n.-192T>G
ENST00000471660.5:c.-223T>G	ENSP00000419998.1:n.-223T>G
ENST00000472024.2:c.-275T>G	ENSP00000480032.1:n.-275T>G
ENST00000494980.5:c.-192T>G	ENSP00000418920.1:n.-192T>G
NM_001244644.1:c.-223T>G	NP_001231573.1:n.-223T>G
NM_014043.3:c.-192T>G	NP_054762.2:n.-192T>G
NM_014043.4:c.-192T>G MANE Select	NP_054762.2:n.-192T>G
NM_001244644.2:c.-223T>G	NP_001231573.1:n.-223T>G