Canonical Allele Identifier: CA2666628530

Gene: CHMP2B

Linked Data

• dbSNP Id: rs2106916708
• gnomAD v4: 3-87253261-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253261A>G , CM000665.2:g.87253261A>G	GRCh38
NC_000003.11:g.87302411A>G , CM000665.1:g.87302411A>G	GRCh37
NC_000003.10:g.87385101A>G	NCBI36
NG_007885.1:g.30999A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.425-143A>G MANE Select	ENSP00000263780.4:n.425-143A>G
ENST00000472024.3:c.473-143A>G	ENSP00000480032.2:n.473-143A>G
ENST00000676705.1:c.473-143A>G	ENSP00000504098.1:n.473-143A>G
ENST00000677929.1:n.3946A>G
ENST00000678859.1:n.4031A>G
ENST00000263780.8:c.425-143A>G	ENSP00000263780.4:n.425-143A>G
ENST00000466696.1:n.213A>G
ENST00000471660.5:c.302-143A>G	ENSP00000419998.1:n.302-143A>G
ENST00000472024.2:c.473-143A>G	ENSP00000480032.1:n.473-143A>G
ENST00000494980.5:c.335-143A>G	ENSP00000418920.1:n.335-143A>G
NM_001244644.1:c.302-143A>G	NP_001231573.1:n.302-143A>G
NM_014043.3:c.425-143A>G	NP_054762.2:n.425-143A>G
XM_011533576.1:c.473-143A>G	XP_011531878.1:n.473-143A>G
XM_011533576.2:c.473-143A>G	XP_011531878.1:n.473-143A>G
NM_014043.4:c.425-143A>G MANE Select	NP_054762.2:n.425-143A>G
NM_001244644.2:c.302-143A>G	NP_001231573.1:n.302-143A>G