Canonical Allele Identifier: CA393318918
Gene: AP3B2 HGNC NCBI
CPEB1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.82680566C>T , CM000677.2:g.82680566C>T GRCh38
NC_000015.9:g.83349318C>T , CM000677.1:g.83349318C>T GRCh37
NC_000015.8:g.81146372C>T NCBI36
NG_052957.1:g.34343G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261722.8:c.961G>A (AP3B2) ENSP00000261722.4:p.Val321Met
ENST00000535359.6:c.961G>A (AP3B2) MANE Select ENSP00000440984.1:p.Val321Met
ENST00000535385.6:n.1464G>A (AP3B2)
ENST00000537735.2:n.1107G>A (AP3B2)
ENST00000543938.6:n.1164G>A (AP3B2)
ENST00000642989.2:c.1090G>A (AP3B2) ENSP00000493485.1:p.Val364Met
ENST00000652847.1:c.961G>A (AP3B2) ENSP00000499785.1:p.Val321Met
ENST00000657321.1:c.*585G>A (AP3B2) ENSP00000499716.1:n.*585G>A
ENST00000661532.1:c.188G>A (AP3B2)
ENST00000663651.1:n.1103G>A (AP3B2)
ENST00000664460.1:c.865G>A (AP3B2) ENSP00000499798.1:p.Val289Met
ENST00000666055.1:c.961G>A (AP3B2) ENSP00000499608.1:p.Val321Met
ENST00000666973.1:c.961G>A (AP3B2) ENSP00000499288.1:p.Val321Met
ENST00000667758.1:c.*849G>A (AP3B2) ENSP00000499318.1:n.*849G>A
ENST00000668385.1:c.*759G>A (AP3B2) ENSP00000499544.1:n.*759G>A
ENST00000668458.1:c.582G>A (AP3B2)
ENST00000668990.2:c.961G>A (AP3B2) ENSP00000499235.1:p.Val321Met
ENST00000669930.1:c.790G>A (AP3B2) ENSP00000499671.1:p.Val264Met
ENST00000679388.1:n.900G>A (AP3B2)
ENST00000679531.1:n.1367G>A (AP3B2)
ENST00000679950.1:n.1340G>A (AP3B2)
ENST00000680492.1:n.1367G>A (AP3B2)
ENST00000680946.1:n.1367G>A (AP3B2)
ENST00000681044.1:n.1367G>A (AP3B2)
ENST00000681327.1:c.*585G>A (AP3B2) ENSP00000505423.1:n.*585G>A
ENST00000681452.1:n.1367G>A (AP3B2)
ENST00000681464.1:n.1367G>A (AP3B2)
ENST00000261722.7:c.961G>A (AP3B2) ENSP00000261722.3:p.Val321Met
ENST00000535348.5:c.865G>A (AP3B2) ENSP00000438721.1:p.Val289Met
ENST00000535359.5:c.961G>A (AP3B2) ENSP00000440984.1:p.Val321Met
ENST00000620652.4:c.961G>A (AP3B2) ENSP00000479229.1:p.Val321Met
NM_001278511.1:c.865G>A (AP3B2) NP_001265440.1:p.Val289Met
NM_001278512.1:c.961G>A (AP3B2) NP_001265441.1:p.Val321Met
NM_004644.4:c.961G>A (AP3B2) NP_004635.2:p.Val321Met
NR_046096.1:n.1329-11445C>T (CPEB1-AS1)
XM_011522097.1:c.961G>A (AP3B2) XP_011520399.1:p.Val321Met
XM_011522098.1:c.865G>A (AP3B2) XP_011520400.1:p.Val289Met
XM_011522099.1:c.961G>A (AP3B2) XP_011520401.1:p.Val321Met
XM_017022640.2:c.961G>A (AP3B2) XP_016878129.1:p.Val321Met
XM_017022641.2:c.961G>A (AP3B2) XP_016878130.1:p.Val321Met
XR_001751404.2:n.1127G>A (AP3B2)
NM_001278512.2:c.961G>A (AP3B2) MANE Select NP_001265441.1:p.Val321Met
NM_004644.5:c.961G>A (AP3B2) NP_004635.2:p.Val321Met
NM_001278511.2:c.865G>A (AP3B2) NP_001265440.1:p.Val289Met