Canonical Allele Identifier: CA2060497551
Gene: APPL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.105189851A>T , CM000674.2:g.105189851A>T GRCh38
NC_000012.11:g.105583629A>T , CM000674.1:g.105583629A>T GRCh37
NC_000012.10:g.104107759A>T NCBI36
NG_030419.1:g.51380T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258530.8:c.1407-27T>A MANE Select ENSP00000258530.3:n.1407-27T>A
ENST00000258530.7:c.1407-27T>A ENSP00000258530.3:n.1407-27T>A
ENST00000539978.6:c.1278-27T>A ENSP00000444472.2:n.1278-27T>A
ENST00000547439.5:c.*692-27T>A ENSP00000449410.1:n.*692-27T>A
ENST00000547809.5:n.1417-27T>A
ENST00000551662.5:c.1425-27T>A ENSP00000446917.1:n.1425-27T>A
ENST00000552945.1:n.220T>A
ENST00000553109.1:n.51-27T>A ENSP00000446510.1:n.51-27T>A
NM_001251904.1:c.1425-27T>A NP_001238833.1:n.1425-27T>A
NM_001251905.1:c.1278-27T>A NP_001238834.1:n.1278-27T>A
NM_018171.3:c.1407-27T>A NP_060641.2:n.1407-27T>A
XM_006719472.1:c.1425-27T>A XP_006719535.1:n.1425-27T>A
XM_011538530.1:c.1386-27T>A XP_011536832.1:n.1386-27T>A
XM_011538531.1:c.1296-27T>A XP_011536833.1:n.1296-27T>A
XM_011538532.1:c.1296-27T>A XP_011536834.1:n.1296-27T>A
XM_011538530.3:c.1386-27T>A XP_011536832.1:n.1386-27T>A
XM_011538531.3:c.1296-27T>A XP_011536833.1:n.1296-27T>A
XM_011538532.3:c.1296-27T>A XP_011536834.1:n.1296-27T>A
XM_017019551.2:c.1368-27T>A XP_016875040.1:n.1368-27T>A
XM_017019552.2:c.1278-27T>A XP_016875041.1:n.1278-27T>A
XM_017019553.2:c.1278-27T>A XP_016875042.1:n.1278-27T>A
XM_017019554.1:c.1407-27T>A XP_016875043.1:n.1407-27T>A
XR_001748795.1:n.1587-27T>A
XR_001748796.1:n.1569-27T>A
NM_018171.4:c.1407-27T>A NP_060641.2:n.1407-27T>A
NM_018171.5:c.1407-27T>A MANE Select NP_060641.2:n.1407-27T>A
NM_001251904.2:c.1425-27T>A NP_001238833.1:n.1425-27T>A
NM_001251905.2:c.1278-27T>A NP_001238834.1:n.1278-27T>A