Canonical Allele Identifier: CA2575273424
Gene: APPL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.105189891_105189892dup , CM000674.2:g.105189891_105189892dup GRCh38
NC_000012.11:g.105583669_105583670dup , CM000674.1:g.105583669_105583670dup GRCh37
NC_000012.10:g.104107799_104107800dup NCBI36
NG_030419.1:g.51339_51340dup

Transcript Alleles

HGVS Amino-acid change
ENST00000258530.8:c.1407-68_1407-67dup MANE Select ENSP00000258530.3:n.1407-68_1407-67dup
ENST00000258530.7:c.1407-68_1407-67dup ENSP00000258530.3:n.1407-68_1407-67dup
ENST00000539978.6:c.1278-68_1278-67dup ENSP00000444472.2:n.1278-68_1278-67dup
ENST00000547439.5:c.*692-68_*692-67dup ENSP00000449410.1:n.*692-68_*692-67dup
ENST00000547809.5:n.1417-68_1417-67dup
ENST00000551662.5:c.1425-68_1425-67dup ENSP00000446917.1:n.1425-68_1425-67dup
ENST00000552945.1:n.182-3_182-2dup
ENST00000553109.1:c.51-68_51-67dup ENSP00000446510.1:n.51-68_51-67dup
NM_001251904.1:c.1425-68_1425-67dup NP_001238833.1:n.1425-68_1425-67dup
NM_001251905.1:c.1278-68_1278-67dup NP_001238834.1:n.1278-68_1278-67dup
NM_018171.3:c.1407-68_1407-67dup NP_060641.2:n.1407-68_1407-67dup
XM_006719472.1:c.1425-68_1425-67dup XP_006719535.1:n.1425-68_1425-67dup
XM_011538530.1:c.1386-68_1386-67dup XP_011536832.1:n.1386-68_1386-67dup
XM_011538531.1:c.1296-68_1296-67dup XP_011536833.1:n.1296-68_1296-67dup
XM_011538532.1:c.1296-68_1296-67dup XP_011536834.1:n.1296-68_1296-67dup
XM_011538530.3:c.1386-68_1386-67dup XP_011536832.1:n.1386-68_1386-67dup
XM_011538531.3:c.1296-68_1296-67dup XP_011536833.1:n.1296-68_1296-67dup
XM_011538532.3:c.1296-68_1296-67dup XP_011536834.1:n.1296-68_1296-67dup
XM_017019551.2:c.1368-68_1368-67dup XP_016875040.1:n.1368-68_1368-67dup
XM_017019552.2:c.1278-68_1278-67dup XP_016875041.1:n.1278-68_1278-67dup
XM_017019553.2:c.1278-68_1278-67dup XP_016875042.1:n.1278-68_1278-67dup
XM_017019554.1:c.1407-68_1407-67dup XP_016875043.1:n.1407-68_1407-67dup
XR_001748795.1:n.1587-68_1587-67dup
XR_001748796.1:n.1569-68_1569-67dup
NM_018171.4:c.1407-68_1407-67dup NP_060641.2:n.1407-68_1407-67dup
NM_018171.5:c.1407-68_1407-67dup MANE Select NP_060641.2:n.1407-68_1407-67dup
NM_001251904.2:c.1425-68_1425-67dup NP_001238833.1:n.1425-68_1425-67dup
NM_001251905.2:c.1278-68_1278-67dup NP_001238834.1:n.1278-68_1278-67dup