Canonical Allele Identifier: CA2622928113

Gene: CPB2 CPB2-AS1

Linked Data

• gnomAD v4: 13-46055799-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46055803_46055804del , CM000675.2:g.46055803_46055804del	GRCh38
NC_000013.10:g.46629938_46629939del , CM000675.1:g.46629938_46629939del	GRCh37
NC_000013.9:g.45527939_45527940del	NCBI36
NG_032893.1:g.54276_54277del
NG_032893.2:g.54233_54234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181383.10:c.1048_1049del (CPB2) MANE Select	ENSP00000181383.4:p.Asn350TyrfsTer25
ENST00000439329.5:c.937_938del (CPB2)	ENSP00000400714.3:p.Asn313TyrfsTer25
ENST00000675730.1:c.*180_*181del (CPB2)	ENSP00000502038.1:n.*180_*181del
ENST00000181383.8:c.1048_1049del (CPB2)	ENSP00000181383.4:p.Asn350TyrfsTer25
ENST00000439329.4:c.937_938del (CPB2)	ENSP00000400714.3:p.Asn313TyrfsTer25
NM_001278541.1:c.937_938del (CPB2)	NP_001265470.1:p.Asn313TyrfsTer25
NM_001872.4:c.1048_1049del (CPB2)	NP_001863.3:p.Asn350TyrfsTer25
NR_046226.1:n.118+2838_118+2839del (CPB2-AS1)
NR_046227.1:n.118+2838_118+2839del (CPB2-AS1)
XM_017020393.2:c.1021_1022del (CPB2)	XP_016875882.1:p.Asn341TyrfsTer25
NM_001872.5:c.1048_1049del (CPB2) MANE Select	NP_001863.3:p.Asn350TyrfsTer25
NM_001278541.2:c.937_938del (CPB2)	NP_001265470.1:p.Asn313TyrfsTer25