Canonical Allele Identifier: CA911572112

Gene: CHMP2B

Linked Data

• dbSNP Id: rs1297345196
• gnomAD v3: 3-87254457-AATT-A
• gnomAD v4: 3-87254457-AATT-A
• MyVariant Identifiers: chr3:g.87303608_87303610del (hg19) ; chr3:g.87254458_87254460del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87254461_87254463del , CM000665.2:g.87254461_87254463del	GRCh38
NC_000003.11:g.87303611_87303613del , CM000665.1:g.87303611_87303613del	GRCh37
NC_000003.10:g.87386301_87386303del	NCBI36
NG_007885.1:g.32199_32201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.*639_*641del MANE Select	ENSP00000263780.4:n.*639_*641del
ENST00000472024.3:c.*639_*641del	ENSP00000480032.2:n.*639_*641del
ENST00000676705.1:c.*639_*641del	ENSP00000504098.1:n.*639_*641del
ENST00000677929.1:n.4945_4947del
ENST00000678859.1:n.5030_5032del
ENST00000263780.8:c.*639_*641del	ENSP00000263780.4:n.*639_*641del
ENST00000471660.5:c.*639_*641del	ENSP00000419998.1:n.*639_*641del
NM_001244644.1:c.*639_*641del	NP_001231573.1:n.*639_*641del
NM_014043.3:c.*639_*641del	NP_054762.2:n.*639_*641del
XM_011533576.1:c.*639_*641del	XP_011531878.1:n.*639_*641del
XM_011533576.2:c.*639_*641del	XP_011531878.1:n.*639_*641del
NM_014043.4:c.*639_*641del MANE Select	NP_054762.2:n.*639_*641del
NM_001244644.2:c.*639_*641del	NP_001231573.1:n.*639_*641del