Canonical Allele Identifier: CA609556612

Gene: CPB2 CPB2-AS1

Linked Data

• dbSNP Id: rs1165850894
• gnomAD v2: 13-46629867-T-G
• gnomAD v3: 13-46055732-T-G
• gnomAD v4: 13-46055732-T-G
• MyVariant Identifiers: chr13:g.46629867T>G (hg19) ; chr13:g.46055732T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46055732T>G , CM000675.2:g.46055732T>G	GRCh38
NC_000013.10:g.46629867T>G , CM000675.1:g.46629867T>G	GRCh37
NC_000013.9:g.45527868T>G	NCBI36
NG_032893.1:g.54345A>C
NG_032893.2:g.54302A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181383.10:c.1087+30A>C (CPB2) MANE Select	ENSP00000181383.4:n.1087+30A>C
ENST00000439329.5:c.976+30A>C (CPB2)	ENSP00000400714.3:n.976+30A>C
ENST00000675730.1:c.*219+30A>C (CPB2)	ENSP00000502038.1:n.*219+30A>C
ENST00000181383.8:c.1087+30A>C (CPB2)	ENSP00000181383.4:n.1087+30A>C
ENST00000439329.4:c.976+30A>C (CPB2)	ENSP00000400714.3:n.976+30A>C
NM_001278541.1:c.976+30A>C (CPB2)	NP_001265470.1:n.976+30A>C
NM_001872.4:c.1087+30A>C (CPB2)	NP_001863.3:n.1087+30A>C
NR_046226.1:n.118+2767T>G (CPB2-AS1)
NR_046227.1:n.118+2767T>G (CPB2-AS1)
XM_017020393.2:c.1060+30A>C (CPB2)	XP_016875882.1:n.1060+30A>C
NM_001872.5:c.1087+30A>C (CPB2) MANE Select	NP_001863.3:n.1087+30A>C
NM_001278541.2:c.976+30A>C (CPB2)	NP_001265470.1:n.976+30A>C