Canonical Allele Identifier: CA2575409764

Gene: CPB2 CPB2-AS1

Linked Data

• gnomAD v4: 13-46055763-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46055765del , CM000675.2:g.46055765del	GRCh38
NC_000013.10:g.46629900del , CM000675.1:g.46629900del	GRCh37
NC_000013.9:g.45527901del	NCBI36
NG_032893.1:g.54313del
NG_032893.2:g.54270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181383.10:c.1085del (CPB2) MANE Select	ENSP00000181383.4:p.Leu362TyrfsTer3
ENST00000439329.5:c.974del (CPB2)	ENSP00000400714.3:p.Leu325TyrfsTer3
ENST00000675730.1:c.*217del (CPB2)	ENSP00000502038.1:n.*217del
ENST00000181383.8:c.1085del (CPB2)	ENSP00000181383.4:p.Leu362TyrfsTer3
ENST00000439329.4:c.974del (CPB2)	ENSP00000400714.3:p.Leu325TyrfsTer3
NM_001278541.1:c.974del (CPB2)	NP_001265470.1:p.Leu325TyrfsTer3
NM_001872.4:c.1085del (CPB2)	NP_001863.3:p.Leu362TyrfsTer3
NR_046226.1:n.118+2800del (CPB2-AS1)
NR_046227.1:n.118+2800del (CPB2-AS1)
XM_017020393.2:c.1058del (CPB2)	XP_016875882.1:p.Leu353TyrfsTer3
NM_001872.5:c.1085del (CPB2) MANE Select	NP_001863.3:p.Leu362TyrfsTer3
NM_001278541.2:c.974del (CPB2)	NP_001265470.1:p.Leu325TyrfsTer3