Canonical Allele Identifier: CA388125881

Gene: CPB2 CPB2-AS1

Linked Data

• dbSNP Id: rs1926447
• gnomAD v4: 13-46055809-A-T
• MyVariant Identifiers: chr13:g.46629944A>T (hg19) ; chr13:g.46055809A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46055809A>T , CM000675.2:g.46055809A>T	GRCh38
NC_000013.10:g.46629944A>T , CM000675.1:g.46629944A>T	GRCh37
NC_000013.9:g.45527945A>T	NCBI36
NG_032893.2:g.54225T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000181383.10:c.1040T>A (CPB2) MANE Select	ENSP00000181383.4:p.Ile347Asn
ENST00000439329.5:c.929T>A (CPB2)	ENSP00000400714.3:p.Ile310Asn
ENST00000675730.1:c.*172T>A (CPB2)	ENSP00000502038.1:n.*172T>A
ENST00000181383.8:c.1040T>A (CPB2)	ENSP00000181383.4:p.Ile347Asn
ENST00000439329.4:c.929T>A (CPB2)	ENSP00000400714.3:p.Ile310Asn
NM_001278541.1:c.929T>A (CPB2)	NP_001265470.1:p.Ile310Asn
NM_001872.4:c.1040T>A (CPB2)	NP_001863.3:p.Ile347Asn
NR_046226.1:n.118+2844A>T (CPB2-AS1)
NR_046227.1:n.118+2844A>T (CPB2-AS1)
XM_017020393.2:c.1013T>A (CPB2)	XP_016875882.1:p.Ile338Asn
NM_001872.5:c.1040T>A (CPB2) MANE Select	NP_001863.3:p.Ile347Asn
NM_001278541.2:c.929T>A (CPB2)	NP_001265470.1:p.Ile310Asn