Canonical Allele Identifier: CA483527210

Gene: CPB2 CPB2-AS1

Linked Data

• gnomAD v4: 13-46055793-C-T
• MyVariant Identifiers: chr13:g.46629928C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46055793C>T , CM000675.2:g.46055793C>T	GRCh38
NC_000013.10:g.46629928C>T , CM000675.1:g.46629928C>T	GRCh37
NC_000013.9:g.45527929C>T	NCBI36
NG_032893.1:g.54284G>A
NG_032893.2:g.54241G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181383.10:c.1056G>A (CPB2) MANE Select	ENSP00000181383.4:p.Arg352=
ENST00000439329.5:c.945G>A (CPB2)	ENSP00000400714.3:p.Arg315=
ENST00000675730.1:c.*188G>A (CPB2)	ENSP00000502038.1:n.*188G>A
ENST00000181383.8:c.1056G>A (CPB2)	ENSP00000181383.4:p.Arg352=
ENST00000439329.4:c.945G>A (CPB2)	ENSP00000400714.3:p.Arg315=
NM_001278541.1:c.945G>A (CPB2)	NP_001265470.1:p.Arg315=
NM_001872.4:c.1056G>A (CPB2)	NP_001863.3:p.Arg352=
NR_046226.1:n.118+2828C>T (CPB2-AS1)
NR_046227.1:n.118+2828C>T (CPB2-AS1)
XM_017020393.2:c.1029G>A (CPB2)	XP_016875882.1:p.Arg343=
NM_001872.5:c.1056G>A (CPB2) MANE Select	NP_001863.3:p.Arg352=
NM_001278541.2:c.945G>A (CPB2)	NP_001265470.1:p.Arg315=