Canonical Allele Identifier: CA2577827017

Gene: CHMP2B

Linked Data

• gnomAD v4: 3-87253304-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253304C>A , CM000665.2:g.87253304C>A	GRCh38
NC_000003.11:g.87302454C>A , CM000665.1:g.87302454C>A	GRCh37
NC_000003.10:g.87385144C>A	NCBI36
NG_007885.1:g.31042C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.425-100C>A MANE Select	ENSP00000263780.4:n.425-100C>A
ENST00000472024.3:c.473-100C>A	ENSP00000480032.2:n.473-100C>A
ENST00000676705.1:c.473-100C>A	ENSP00000504098.1:n.473-100C>A
ENST00000677929.1:n.3989C>A
ENST00000678859.1:n.4074C>A
ENST00000263780.8:c.425-100C>A	ENSP00000263780.4:n.425-100C>A
ENST00000466696.1:n.256C>A
ENST00000471660.5:c.302-100C>A	ENSP00000419998.1:n.302-100C>A
ENST00000472024.2:c.473-100C>A	ENSP00000480032.1:n.473-100C>A
ENST00000494980.5:c.335-100C>A	ENSP00000418920.1:n.335-100C>A
NM_001244644.1:c.302-100C>A	NP_001231573.1:n.302-100C>A
NM_014043.3:c.425-100C>A	NP_054762.2:n.425-100C>A
XM_011533576.1:c.473-100C>A	XP_011531878.1:n.473-100C>A
XM_011533576.2:c.473-100C>A	XP_011531878.1:n.473-100C>A
NM_014043.4:c.425-100C>A MANE Select	NP_054762.2:n.425-100C>A
NM_001244644.2:c.302-100C>A	NP_001231573.1:n.302-100C>A