Canonical Allele Identifier: CA2622928069
Gene: CPB2 HGNC NCBI
CPB2-AS1 HGNC NCBI

Linked Data

gnomAD v4: 13-46055704-TCA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.46055709_46055710del , CM000675.2:g.46055709_46055710del GRCh38
NC_000013.10:g.46629844_46629845del , CM000675.1:g.46629844_46629845del GRCh37
NC_000013.9:g.45527845_45527846del NCBI36
NG_032893.1:g.54371_54372del
NG_032893.2:g.54328_54329del

Transcript Alleles

HGVS Amino-acid Change
ENST00000181383.10:c.1087+56_1087+57del (CPB2) MANE Select ENSP00000181383.4:n.1087+56_1087+57del
ENST00000439329.5:c.976+56_976+57del (CPB2) ENSP00000400714.3:n.976+56_976+57del
ENST00000675730.1:c.*219+56_*219+57del (CPB2) ENSP00000502038.1:n.*219+56_*219+57del
ENST00000181383.8:c.1087+56_1087+57del (CPB2) ENSP00000181383.4:n.1087+56_1087+57del
ENST00000439329.4:c.976+56_976+57del (CPB2) ENSP00000400714.3:n.976+56_976+57del
NM_001278541.1:c.976+56_976+57del (CPB2) NP_001265470.1:n.976+56_976+57del
NM_001872.4:c.1087+56_1087+57del (CPB2) NP_001863.3:n.1087+56_1087+57del
NR_046226.1:n.118+2744_118+2745del (CPB2-AS1)
NR_046227.1:n.118+2744_118+2745del (CPB2-AS1)
XM_017020393.2:c.1060+56_1060+57del (CPB2) XP_016875882.1:n.1060+56_1060+57del
NM_001872.5:c.1087+56_1087+57del (CPB2) MANE Select NP_001863.3:n.1087+56_1087+57del
NM_001278541.2:c.976+56_976+57del (CPB2) NP_001265470.1:n.976+56_976+57del
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