Canonical Allele Identifier: CA2666628527

Gene: CHMP2B

Linked Data

• gnomAD v4: 3-87253258-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253258C>A , CM000665.2:g.87253258C>A	GRCh38
NC_000003.11:g.87302408C>A , CM000665.1:g.87302408C>A	GRCh37
NC_000003.10:g.87385098C>A	NCBI36
NG_007885.1:g.30996C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.425-146C>A MANE Select	ENSP00000263780.4:n.425-146C>A
ENST00000472024.3:c.473-146C>A	ENSP00000480032.2:n.473-146C>A
ENST00000676705.1:c.473-146C>A	ENSP00000504098.1:n.473-146C>A
ENST00000677929.1:n.3943C>A
ENST00000678859.1:n.4028C>A
ENST00000263780.8:c.425-146C>A	ENSP00000263780.4:n.425-146C>A
ENST00000466696.1:n.210C>A
ENST00000471660.5:c.302-146C>A	ENSP00000419998.1:n.302-146C>A
ENST00000472024.2:c.473-146C>A	ENSP00000480032.1:n.473-146C>A
ENST00000494980.5:c.335-146C>A	ENSP00000418920.1:n.335-146C>A
NM_001244644.1:c.302-146C>A	NP_001231573.1:n.302-146C>A
NM_014043.3:c.425-146C>A	NP_054762.2:n.425-146C>A
XM_011533576.1:c.473-146C>A	XP_011531878.1:n.473-146C>A
XM_011533576.2:c.473-146C>A	XP_011531878.1:n.473-146C>A
NM_014043.4:c.425-146C>A MANE Select	NP_054762.2:n.425-146C>A
NM_001244644.2:c.302-146C>A	NP_001231573.1:n.302-146C>A