Canonical Allele Identifier: CA353696927

Gene: CHMP2B

Linked Data

• dbSNP Id: rs1706200676
• gnomAD v3: 3-87245799-A-G
• gnomAD v4: 3-87245799-A-G
• MyVariant Identifiers: chr3:g.87294949A>G (hg19) ; chr3:g.87245799A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87245799A>G , CM000665.2:g.87245799A>G	GRCh38
NC_000003.11:g.87294949A>G , CM000665.1:g.87294949A>G	GRCh37
NC_000003.10:g.87377639A>G	NCBI36
NG_007885.1:g.23537A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.212A>G MANE Select	ENSP00000263780.4:p.Gln71Arg
ENST00000472024.3:c.260A>G	ENSP00000480032.2:p.Gln87Arg
ENST00000676705.1:c.260A>G	ENSP00000504098.1:p.Gln87Arg
ENST00000676947.1:n.365A>G
ENST00000677929.1:n.450A>G
ENST00000678818.1:n.1063-616A>G
ENST00000678859.1:n.535A>G
ENST00000263780.8:c.212A>G	ENSP00000263780.4:p.Gln71Arg
ENST00000471660.5:c.89A>G	ENSP00000419998.1:p.Gln30Arg
ENST00000472024.2:c.260A>G	ENSP00000480032.1:p.Gln87Arg
ENST00000494980.5:c.212A>G	ENSP00000418920.1:p.Gln71Arg
NM_001244644.1:c.89A>G	NP_001231573.1:p.Gln30Arg
NM_014043.3:c.212A>G	NP_054762.2:p.Gln71Arg
XM_011533576.1:c.260A>G	XP_011531878.1:p.Gln87Arg
XM_011533576.2:c.260A>G	XP_011531878.1:p.Gln87Arg
NM_014043.4:c.212A>G MANE Select	NP_054762.2:p.Gln71Arg
NM_001244644.2:c.89A>G	NP_001231573.1:p.Gln30Arg