Canonical Allele Identifier: CA10617526

Gene: CHMP2B

Linked Data

• ClinVar Variation Id: 346803
• ClinVar RCV Id: RCV000324889
• dbSNP Id: rs886058905
• MyVariant Identifiers: chr3:g.87276635C>T (hg19) ; chr3:g.87227485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87227485C>T , CM000665.2:g.87227485C>T	GRCh38
NC_000003.11:g.87276635C>T , CM000665.1:g.87276635C>T	GRCh37
NC_000003.10:g.87359325C>T	NCBI36
NG_007885.1:g.5223C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.-38C>T MANE Select	ENSP00000263780.4:n.-38C>T
ENST00000472024.3:c.-121C>T	ENSP00000480032.2:n.-121C>T
ENST00000676705.1:c.-117C>T	ENSP00000504098.1:n.-117C>T
ENST00000676947.1:n.116C>T
ENST00000677929.1:n.201C>T
ENST00000678859.1:n.159C>T
ENST00000263780.8:c.-38C>T	ENSP00000263780.4:n.-38C>T
ENST00000471660.5:c.-69C>T	ENSP00000419998.1:n.-69C>T
ENST00000472024.2:c.-121C>T	ENSP00000480032.1:n.-121C>T
ENST00000494980.5:c.-38C>T	ENSP00000418920.1:n.-38C>T
NM_001244644.1:c.-69C>T	NP_001231573.1:n.-69C>T
NM_014043.3:c.-38C>T	NP_054762.2:n.-38C>T
NM_014043.4:c.-38C>T MANE Select	NP_054762.2:n.-38C>T
NM_001244644.2:c.-69C>T	NP_001231573.1:n.-69C>T