Canonical Allele Identifier: CA6759525
Gene: APPL2 HGNC NCBI

Linked Data

dbSNP Id: rs139106853

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.105189823G>A , CM000674.2:g.105189823G>A GRCh38
NC_000012.11:g.105583601G>A , CM000674.1:g.105583601G>A GRCh37
NC_000012.10:g.104107731G>A NCBI36
NG_030419.1:g.51408C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258530.8:c.1408C>T MANE Select ENSP00000258530.3:p.Arg470Cys
ENST00000258530.7:c.1408C>T ENSP00000258530.3:p.Arg470Cys
ENST00000539978.6:c.1279C>T ENSP00000444472.2:p.Arg427Cys
ENST00000547439.5:c.*693C>T ENSP00000449410.1:n.*693C>T
ENST00000547809.5:n.1418C>T
ENST00000551662.5:c.1426C>T ENSP00000446917.1:p.Arg476Cys
ENST00000552945.1:n.248C>T
ENST00000553109.1:n.52C>T ENSP00000446510.1:p.Arg18Cys
NM_001251904.1:c.1426C>T NP_001238833.1:p.Arg476Cys
NM_001251905.1:c.1279C>T NP_001238834.1:p.Arg427Cys
NM_018171.3:c.1408C>T NP_060641.2:p.Arg470Cys
XM_006719472.1:c.1426C>T XP_006719535.1:p.Arg476Cys
XM_011538530.1:c.1387C>T XP_011536832.1:p.Arg463Cys
XM_011538531.1:c.1297C>T XP_011536833.1:p.Arg433Cys
XM_011538532.1:c.1297C>T XP_011536834.1:p.Arg433Cys
XM_011538530.3:c.1387C>T XP_011536832.1:p.Arg463Cys
XM_011538531.3:c.1297C>T XP_011536833.1:p.Arg433Cys
XM_011538532.3:c.1297C>T XP_011536834.1:p.Arg433Cys
XM_017019551.2:c.1369C>T XP_016875040.1:p.Arg457Cys
XM_017019552.2:c.1279C>T XP_016875041.1:p.Arg427Cys
XM_017019553.2:c.1279C>T XP_016875042.1:p.Arg427Cys
XM_017019554.1:c.1408C>T XP_016875043.1:p.Arg470Cys
XR_001748795.1:n.1588C>T
XR_001748796.1:n.1570C>T
NM_018171.4:c.1408C>T NP_060641.2:p.Arg470Cys
NM_018171.5:c.1408C>T MANE Select NP_060641.2:p.Arg470Cys
NM_001251904.2:c.1426C>T NP_001238833.1:p.Arg476Cys
NM_001251905.2:c.1279C>T NP_001238834.1:p.Arg427Cys