Canonical Allele Identifier: CA224975

Gene: CHMP2B

Linked Data

• ClinVar Variation Id: 1655
• ClinVar RCV Id: RCV000001722 ; RCV000084276
• dbSNP Id: rs63750355
• MyVariant Identifiers: chr3:g.87302622C>T (hg19) ; chr3:g.87253472C>T (hg38)
• PubMed: PMID:17956895 ; PMID:20301378

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253472C>T , CM000665.2:g.87253472C>T	GRCh38
NC_000003.11:g.87302622C>T , CM000665.1:g.87302622C>T	GRCh37
NC_000003.10:g.87385312C>T	NCBI36
NG_007885.1:g.31210C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.493C>T MANE Select	ENSP00000263780.4:p.Gln165Ter
ENST00000472024.3:c.541C>T	ENSP00000480032.2:p.Gln181Ter
ENST00000676705.1:c.541C>T	ENSP00000504098.1:p.Gln181Ter
ENST00000677929.1:n.4157C>T
ENST00000678859.1:n.4242C>T
ENST00000263780.8:c.493C>T	ENSP00000263780.4:p.Gln165Ter
ENST00000466696.1:n.424C>T
ENST00000471660.5:c.370C>T	ENSP00000419998.1:p.Gln124Ter
ENST00000494980.5:c.403C>T	ENSP00000418920.1:p.Gln135Ter
NM_001244644.1:c.370C>T	NP_001231573.1:p.Gln124Ter
NM_014043.3:c.493C>T	NP_054762.2:p.Gln165Ter
XM_011533576.1:c.541C>T	XP_011531878.1:p.Gln181Ter
XM_011533576.2:c.541C>T	XP_011531878.1:p.Gln181Ter
NM_014043.4:c.493C>T MANE Select	NP_054762.2:p.Gln165Ter
NM_001244644.2:c.370C>T	NP_001231573.1:p.Gln124Ter