Canonical Allele Identifier: CA1381557912

Gene: CHMP2B

Linked Data

• dbSNP Id: rs1706347859
• gnomAD v4: 3-87253251-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253251T>C , CM000665.2:g.87253251T>C	GRCh38
NC_000003.11:g.87302401T>C , CM000665.1:g.87302401T>C	GRCh37
NC_000003.10:g.87385091T>C	NCBI36
NG_007885.1:g.30989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.425-153T>C MANE Select	ENSP00000263780.4:n.425-153T>C
ENST00000472024.3:c.473-153T>C	ENSP00000480032.2:n.473-153T>C
ENST00000676705.1:c.473-153T>C	ENSP00000504098.1:n.473-153T>C
ENST00000677929.1:n.3936T>C
ENST00000678859.1:n.4021T>C
ENST00000263780.8:c.425-153T>C	ENSP00000263780.4:n.425-153T>C
ENST00000466696.1:n.203T>C
ENST00000471660.5:c.302-153T>C	ENSP00000419998.1:n.302-153T>C
ENST00000472024.2:c.473-153T>C	ENSP00000480032.1:n.473-153T>C
ENST00000494980.5:c.335-153T>C	ENSP00000418920.1:n.335-153T>C
NM_001244644.1:c.302-153T>C	NP_001231573.1:n.302-153T>C
NM_014043.3:c.425-153T>C	NP_054762.2:n.425-153T>C
XM_011533576.1:c.473-153T>C	XP_011531878.1:n.473-153T>C
XM_011533576.2:c.473-153T>C	XP_011531878.1:n.473-153T>C
NM_014043.4:c.425-153T>C MANE Select	NP_054762.2:n.425-153T>C
NM_001244644.2:c.302-153T>C	NP_001231573.1:n.302-153T>C