Canonical Allele Identifier: CA483527214
Gene: CPB2 HGNC NCBI
CPB2-AS1 HGNC NCBI

Linked Data

gnomAD v4: 13-46055799-A-G
MyVariant Identifiers: chr13:g.46629934A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.46055799A>G , CM000675.2:g.46055799A>G GRCh38
NC_000013.10:g.46629934A>G , CM000675.1:g.46629934A>G GRCh37
NC_000013.9:g.45527935A>G NCBI36
NG_032893.1:g.54278T>C
NG_032893.2:g.54235T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000181383.10:c.1050T>C (CPB2) MANE Select ENSP00000181383.4:p.Asn350=
ENST00000439329.5:c.939T>C (CPB2) ENSP00000400714.3:p.Asn313=
ENST00000675730.1:c.*182T>C (CPB2) ENSP00000502038.1:n.*182T>C
ENST00000181383.8:c.1050T>C (CPB2) ENSP00000181383.4:p.Asn350=
ENST00000439329.4:c.939T>C (CPB2) ENSP00000400714.3:p.Asn313=
NM_001278541.1:c.939T>C (CPB2) NP_001265470.1:p.Asn313=
NM_001872.4:c.1050T>C (CPB2) NP_001863.3:p.Asn350=
NR_046226.1:n.118+2834A>G (CPB2-AS1)
NR_046227.1:n.118+2834A>G (CPB2-AS1)
XM_017020393.2:c.1023T>C (CPB2) XP_016875882.1:p.Asn341=
NM_001872.5:c.1050T>C (CPB2) MANE Select NP_001863.3:p.Asn350=
NM_001278541.2:c.939T>C (CPB2) NP_001265470.1:p.Asn313=
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