Canonical Allele Identifier: CA1381557925

Gene: CHMP2B

Linked Data

• dbSNP Id: rs1426978593
• gnomAD v4: 3-87253273-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253280del , CM000665.2:g.87253280del	GRCh38
NC_000003.11:g.87302430del , CM000665.1:g.87302430del	GRCh37
NC_000003.10:g.87385120del	NCBI36
NG_007885.1:g.31018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.425-124del MANE Select	ENSP00000263780.4:n.425-124del
ENST00000472024.3:c.473-124del	ENSP00000480032.2:n.473-124del
ENST00000676705.1:c.473-124del	ENSP00000504098.1:n.473-124del
ENST00000677929.1:n.3965del
ENST00000678859.1:n.4050del
ENST00000263780.8:c.425-124del	ENSP00000263780.4:n.425-124del
ENST00000466696.1:n.232del
ENST00000471660.5:c.302-124del	ENSP00000419998.1:n.302-124del
ENST00000472024.2:c.473-124del	ENSP00000480032.1:n.473-124del
ENST00000494980.5:c.335-124del	ENSP00000418920.1:n.335-124del
NM_001244644.1:c.302-124del	NP_001231573.1:n.302-124del
NM_014043.3:c.425-124del	NP_054762.2:n.425-124del
XM_011533576.1:c.473-124del	XP_011531878.1:n.473-124del
XM_011533576.2:c.473-124del	XP_011531878.1:n.473-124del
NM_014043.4:c.425-124del MANE Select	NP_054762.2:n.425-124del
NM_001244644.2:c.302-124del	NP_001231573.1:n.302-124del