Canonical Allele Identifier: CA388125911

Gene: CPB2 CPB2-AS1

Linked Data

• MyVariant Identifiers: chr13:g.46629957C>A (hg19) ; chr13:g.46055822C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46055822C>A , CM000675.2:g.46055822C>A	GRCh38
NC_000013.10:g.46629957C>A , CM000675.1:g.46629957C>A	GRCh37
NC_000013.9:g.45527958C>A	NCBI36
NG_032893.1:g.54255G>T
NG_032893.2:g.54212G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181383.10:c.1027G>T (CPB2) MANE Select	ENSP00000181383.4:p.Ala343Ser
ENST00000439329.5:c.916G>T (CPB2)	ENSP00000400714.3:p.Ala306Ser
ENST00000675730.1:c.*159G>T (CPB2)	ENSP00000502038.1:n.*159G>T
ENST00000181383.8:c.1027G>T (CPB2)	ENSP00000181383.4:p.Ala343Ser
ENST00000439329.4:c.916G>T (CPB2)	ENSP00000400714.3:p.Ala306Ser
NM_001278541.1:c.916G>T (CPB2)	NP_001265470.1:p.Ala306Ser
NM_001872.4:c.1027G>T (CPB2)	NP_001863.3:p.Ala343Ser
NR_046226.1:n.118+2857C>A (CPB2-AS1)
NR_046227.1:n.118+2857C>A (CPB2-AS1)
XM_017020393.2:c.1000G>T (CPB2)	XP_016875882.1:p.Ala334Ser
NM_001872.5:c.1027G>T (CPB2) MANE Select	NP_001863.3:p.Ala343Ser
NM_001278541.2:c.916G>T (CPB2)	NP_001265470.1:p.Ala306Ser