Canonical Allele Identifier: CA2666628181

Gene: CHMP2B

Linked Data

• gnomAD v4: 3-87245798-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87245800_87245801del , CM000665.2:g.87245800_87245801del	GRCh38
NC_000003.11:g.87294950_87294951del , CM000665.1:g.87294950_87294951del	GRCh37
NC_000003.10:g.87377640_87377641del	NCBI36
NG_007885.1:g.23538_23539del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.213_214del MANE Select	ENSP00000263780.4:p.Lys72AspfsTer?
ENST00000472024.3:c.261_262del	ENSP00000480032.2:p.Lys88AspfsTer?
ENST00000676705.1:c.261_262del	ENSP00000504098.1:p.Lys88AspfsTer?
ENST00000676947.1:n.366_367del
ENST00000677929.1:n.451_452del
ENST00000678818.1:n.1063-615_1063-614del
ENST00000678859.1:n.536_537del
ENST00000263780.8:c.213_214del	ENSP00000263780.4:p.Lys72AspfsTer?
ENST00000471660.5:c.90_91del	ENSP00000419998.1:p.Lys31AspfsTer?
ENST00000472024.2:c.261_262del	ENSP00000480032.1:p.Lys88AspfsTer?
ENST00000494980.5:c.213_214del	ENSP00000418920.1:p.Lys72AspfsTer11
NM_001244644.1:c.90_91del	NP_001231573.1:p.Lys31AspfsTer?
NM_014043.3:c.213_214del	NP_054762.2:p.Lys72AspfsTer?
XM_011533576.1:c.261_262del	XP_011531878.1:p.Lys88AspfsTer?
XM_011533576.2:c.261_262del	XP_011531878.1:p.Lys88AspfsTer?
NM_014043.4:c.213_214del MANE Select	NP_054762.2:p.Lys72AspfsTer?
NM_001244644.2:c.90_91del	NP_001231573.1:p.Lys31AspfsTer?