Canonical Allele Identifier: CA6974784

Gene: CPB2 CPB2-AS1

Linked Data

• dbSNP Id: rs754773221
• ExAC: 13:46629966 C / G
• gnomAD v2: 13-46629966-C-G
• gnomAD v4: 13-46055831-C-G
• MyVariant Identifiers: chr13:g.46629966C>G (hg19) ; chr13:g.46055831C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46055831C>G , CM000675.2:g.46055831C>G	GRCh38
NC_000013.10:g.46629966C>G , CM000675.1:g.46629966C>G	GRCh37
NC_000013.9:g.45527967C>G	NCBI36
NG_032893.1:g.54246G>C
NG_032893.2:g.54203G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181383.10:c.1018G>C (CPB2) MANE Select	ENSP00000181383.4:p.Ala340Pro
ENST00000439329.5:c.907G>C (CPB2)	ENSP00000400714.3:p.Ala303Pro
ENST00000675730.1:c.*150G>C (CPB2)	ENSP00000502038.1:n.*150G>C
ENST00000181383.8:c.1018G>C (CPB2)	ENSP00000181383.4:p.Ala340Pro
ENST00000439329.4:c.907G>C (CPB2)	ENSP00000400714.3:p.Ala303Pro
NM_001278541.1:c.907G>C (CPB2)	NP_001265470.1:p.Ala303Pro
NM_001872.4:c.1018G>C (CPB2)	NP_001863.3:p.Ala340Pro
NR_046226.1:n.118+2866C>G (CPB2-AS1)
NR_046227.1:n.118+2866C>G (CPB2-AS1)
XM_017020393.2:c.991G>C (CPB2)	XP_016875882.1:p.Ala331Pro
NM_001872.5:c.1018G>C (CPB2) MANE Select	NP_001863.3:p.Ala340Pro
NM_001278541.2:c.907G>C (CPB2)	NP_001265470.1:p.Ala303Pro