Canonical Allele Identifier: CA388125775

Gene: CPB2 CPB2-AS1

Linked Data

• dbSNP Id: rs1463144267
• gnomAD v2: 13-46629897-A-G
• gnomAD v4: 13-46055762-A-G
• MyVariant Identifiers: chr13:g.46629897A>G (hg19) ; chr13:g.46055762A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46055762A>G , CM000675.2:g.46055762A>G	GRCh38
NC_000013.10:g.46629897A>G , CM000675.1:g.46629897A>G	GRCh37
NC_000013.9:g.45527898A>G	NCBI36
NG_032893.1:g.54315T>C
NG_032893.2:g.54272T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181383.10:c.1087T>C (CPB2) MANE Select	ENSP00000181383.4:p.Tyr363His
ENST00000439329.5:c.976T>C (CPB2)	ENSP00000400714.3:p.Tyr326His
ENST00000675730.1:c.*219T>C (CPB2)	ENSP00000502038.1:n.*219T>C
ENST00000181383.8:c.1087T>C (CPB2)	ENSP00000181383.4:p.Tyr363His
ENST00000439329.4:c.976T>C (CPB2)	ENSP00000400714.3:p.Tyr326His
NM_001278541.1:c.976T>C (CPB2)	NP_001265470.1:p.Tyr326His
NM_001872.4:c.1087T>C (CPB2)	NP_001863.3:p.Tyr363His
NR_046226.1:n.118+2797A>G (CPB2-AS1)
NR_046227.1:n.118+2797A>G (CPB2-AS1)
XM_017020393.2:c.1060T>C (CPB2)	XP_016875882.1:p.Tyr354His
NM_001872.5:c.1087T>C (CPB2) MANE Select	NP_001863.3:p.Tyr363His
NM_001278541.2:c.976T>C (CPB2)	NP_001265470.1:p.Tyr326His