Canonical Allele Identifier: CA353696924

Gene: CHMP2B

Linked Data

• gnomAD v4: 3-87245798-C-G
• MyVariant Identifiers: chr3:g.87294948C>G (hg19) ; chr3:g.87245798C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87245798C>G , CM000665.2:g.87245798C>G	GRCh38
NC_000003.11:g.87294948C>G , CM000665.1:g.87294948C>G	GRCh37
NC_000003.10:g.87377638C>G	NCBI36
NG_007885.1:g.23536C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.211C>G MANE Select	ENSP00000263780.4:p.Gln71Glu
ENST00000472024.3:c.259C>G	ENSP00000480032.2:p.Gln87Glu
ENST00000676705.1:c.259C>G	ENSP00000504098.1:p.Gln87Glu
ENST00000676947.1:n.364C>G
ENST00000677929.1:n.449C>G
ENST00000678818.1:n.1063-617C>G
ENST00000678859.1:n.534C>G
ENST00000263780.8:c.211C>G	ENSP00000263780.4:p.Gln71Glu
ENST00000471660.5:c.88C>G	ENSP00000419998.1:p.Gln30Glu
ENST00000472024.2:c.259C>G	ENSP00000480032.1:p.Gln87Glu
ENST00000494980.5:c.211C>G	ENSP00000418920.1:p.Gln71Glu
NM_001244644.1:c.88C>G	NP_001231573.1:p.Gln30Glu
NM_014043.3:c.211C>G	NP_054762.2:p.Gln71Glu
XM_011533576.1:c.259C>G	XP_011531878.1:p.Gln87Glu
XM_011533576.2:c.259C>G	XP_011531878.1:p.Gln87Glu
NM_014043.4:c.211C>G MANE Select	NP_054762.2:p.Gln71Glu
NM_001244644.2:c.88C>G	NP_001231573.1:p.Gln30Glu