Canonical Allele Identifier: CA2088943298

Gene: CPB2 CPB2-AS1

Linked Data

• dbSNP Id: rs2044688037
• gnomAD v4: 13-46055731-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46055731G>A , CM000675.2:g.46055731G>A	GRCh38
NC_000013.10:g.46629866G>A , CM000675.1:g.46629866G>A	GRCh37
NC_000013.9:g.45527867G>A	NCBI36
NG_032893.1:g.54346C>T
NG_032893.2:g.54303C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000181383.10:c.1087+31C>T (CPB2) MANE Select	ENSP00000181383.4:n.1087+31C>T
ENST00000439329.5:c.976+31C>T (CPB2)	ENSP00000400714.3:n.976+31C>T
ENST00000675730.1:c.*219+31C>T (CPB2)	ENSP00000502038.1:n.*219+31C>T
ENST00000181383.8:c.1087+31C>T (CPB2)	ENSP00000181383.4:n.1087+31C>T
ENST00000439329.4:c.976+31C>T (CPB2)	ENSP00000400714.3:n.976+31C>T
NM_001278541.1:c.976+31C>T (CPB2)	NP_001265470.1:n.976+31C>T
NM_001872.4:c.1087+31C>T (CPB2)	NP_001863.3:n.1087+31C>T
NR_046226.1:n.118+2766G>A (CPB2-AS1)
NR_046227.1:n.118+2766G>A (CPB2-AS1)
XM_017020393.2:c.1060+31C>T (CPB2)	XP_016875882.1:n.1060+31C>T
NM_001872.5:c.1087+31C>T (CPB2) MANE Select	NP_001863.3:n.1087+31C>T
NM_001278541.2:c.976+31C>T (CPB2)	NP_001265470.1:n.976+31C>T