Canonical Allele Identifier: CA2666610559

Gene: CHMP2B

Linked Data

• gnomAD v4: 3-87227328-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87227328A>G , CM000665.2:g.87227328A>G	GRCh38
NC_000003.11:g.87276478A>G , CM000665.1:g.87276478A>G	GRCh37
NC_000003.10:g.87359168A>G	NCBI36
NG_007885.1:g.5066A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.-195A>G MANE Select	ENSP00000263780.4:n.-195A>G
ENST00000472024.3:c.-278A>G	ENSP00000480032.2:n.-278A>G
ENST00000676705.1:c.-274A>G	ENSP00000504098.1:n.-274A>G
ENST00000677929.1:n.44A>G
ENST00000678859.1:n.2A>G
ENST00000263780.8:c.-195A>G	ENSP00000263780.4:n.-195A>G
ENST00000471660.5:c.-226A>G	ENSP00000419998.1:n.-226A>G
ENST00000472024.2:c.-278A>G	ENSP00000480032.1:n.-278A>G
ENST00000494980.5:c.-195A>G	ENSP00000418920.1:n.-195A>G
NM_001244644.1:c.-226A>G	NP_001231573.1:n.-226A>G
NM_014043.3:c.-195A>G	NP_054762.2:n.-195A>G
NM_014043.4:c.-195A>G MANE Select	NP_054762.2:n.-195A>G
NM_001244644.2:c.-226A>G	NP_001231573.1:n.-226A>G