Canonical Allele Identifier: CA386375834
Gene: APPL2 HGNC NCBI

Linked Data

dbSNP Id: rs1362568061

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.105189779T>G , CM000674.2:g.105189779T>G GRCh38
NC_000012.11:g.105583557T>G , CM000674.1:g.105583557T>G GRCh37
NC_000012.10:g.104107687T>G NCBI36
NG_030419.1:g.51452A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258530.8:c.1452A>C MANE Select ENSP00000258530.3:p.Glu484Asp
ENST00000258530.7:c.1452A>C ENSP00000258530.3:p.Glu484Asp
ENST00000539978.6:c.1323A>C ENSP00000444472.2:p.Glu441Asp
ENST00000547439.5:c.*737A>C ENSP00000449410.1:n.*737A>C
ENST00000547809.5:n.1462A>C
ENST00000551662.5:c.1470A>C ENSP00000446917.1:p.Glu490Asp
ENST00000552945.1:n.292A>C
ENST00000553109.1:c.96A>C ENSP00000446510.1:p.Glu32Asp
NM_001251904.1:c.1470A>C NP_001238833.1:p.Glu490Asp
NM_001251905.1:c.1323A>C NP_001238834.1:p.Glu441Asp
NM_018171.3:c.1452A>C NP_060641.2:p.Glu484Asp
XM_006719472.1:c.1470A>C XP_006719535.1:p.Glu490Asp
XM_011538530.1:c.1431A>C XP_011536832.1:p.Glu477Asp
XM_011538531.1:c.1341A>C XP_011536833.1:p.Glu447Asp
XM_011538532.1:c.1341A>C XP_011536834.1:p.Glu447Asp
XM_011538530.3:c.1431A>C XP_011536832.1:p.Glu477Asp
XM_011538531.3:c.1341A>C XP_011536833.1:p.Glu447Asp
XM_011538532.3:c.1341A>C XP_011536834.1:p.Glu447Asp
XM_017019551.2:c.1413A>C XP_016875040.1:p.Glu471Asp
XM_017019552.2:c.1323A>C XP_016875041.1:p.Glu441Asp
XM_017019553.2:c.1323A>C XP_016875042.1:p.Glu441Asp
XM_017019554.1:c.1452A>C XP_016875043.1:p.Glu484Asp
XR_001748795.1:n.1632A>C
XR_001748796.1:n.1614A>C
NM_018171.4:c.1452A>C NP_060641.2:p.Glu484Asp
NM_018171.5:c.1452A>C MANE Select NP_060641.2:p.Glu484Asp
NM_001251904.2:c.1470A>C NP_001238833.1:p.Glu490Asp
NM_001251905.2:c.1323A>C NP_001238834.1:p.Glu441Asp