Canonical Allele Identifier: CA79035750

Gene: CHMP2B

Linked Data

• dbSNP Id: rs942317217
• gnomAD v4: 3-87253421-GAC-G
• MyVariant Identifiers: chr3:g.87302572_87302573del (hg19) ; chr3:g.87253422_87253423del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253423_87253424del , CM000665.2:g.87253423_87253424del	GRCh38
NC_000003.11:g.87302573_87302574del , CM000665.1:g.87302573_87302574del	GRCh37
NC_000003.10:g.87385263_87385264del	NCBI36
NG_007885.1:g.31161_31162del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.444_445del MANE Select	ENSP00000263780.4:p.Ile149LeufsTer2
ENST00000472024.3:c.492_493del	ENSP00000480032.2:p.Ile165LeufsTer2
ENST00000676705.1:c.492_493del	ENSP00000504098.1:p.Ile165LeufsTer2
ENST00000677929.1:n.4108_4109del
ENST00000678859.1:n.4193_4194del
ENST00000263780.8:c.444_445del	ENSP00000263780.4:p.Ile149LeufsTer2
ENST00000466696.1:n.375_376del
ENST00000471660.5:c.321_322del	ENSP00000419998.1:p.Ile108LeufsTer2
ENST00000472024.2:c.492_493del	ENSP00000480032.1:p.Ile165LeufsTer2
ENST00000494980.5:c.354_355del	ENSP00000418920.1:p.Ile119LeufsTer2
NM_001244644.1:c.321_322del	NP_001231573.1:p.Ile108LeufsTer2
NM_014043.3:c.444_445del	NP_054762.2:p.Ile149LeufsTer2
XM_011533576.1:c.492_493del	XP_011531878.1:p.Ile165LeufsTer2
XM_011533576.2:c.492_493del	XP_011531878.1:p.Ile165LeufsTer2
NM_014043.4:c.444_445del MANE Select	NP_054762.2:p.Ile149LeufsTer2
NM_001244644.2:c.321_322del	NP_001231573.1:p.Ile108LeufsTer2