Canonical Allele Identifier: CA2060497539

Gene: APPL2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000258530.8:c.1408C= MANE Select	ENSP00000258530.3:p.Arg470=
ENST00000258530.7:c.1408C=	ENSP00000258530.3:p.Arg470=
ENST00000539978.6:c.1279C=	ENSP00000444472.2:p.Arg427=
ENST00000547439.5:c.*693C=	ENSP00000449410.1:n.*693C=
ENST00000547809.5:n.1418C=
ENST00000551662.5:c.1426C=	ENSP00000446917.1:p.Arg476=
ENST00000552945.1:n.248C=
ENST00000553109.1:c.52C=	ENSP00000446510.1:p.Arg18=
NM_001251904.1:c.1426C=	NP_001238833.1:p.Arg476=
NM_001251905.1:c.1279C=	NP_001238834.1:p.Arg427=
NM_018171.3:c.1408C=	NP_060641.2:p.Arg470=
XM_006719472.1:c.1426C=	XP_006719535.1:p.Arg476=
XM_011538530.1:c.1387C=	XP_011536832.1:p.Arg463=
XM_011538531.1:c.1297C=	XP_011536833.1:p.Arg433=
XM_011538532.1:c.1297C=	XP_011536834.1:p.Arg433=
XM_011538530.3:c.1387C=	XP_011536832.1:p.Arg463=
XM_011538531.3:c.1297C=	XP_011536833.1:p.Arg433=
XM_011538532.3:c.1297C=	XP_011536834.1:p.Arg433=
XM_017019551.2:c.1369C=	XP_016875040.1:p.Arg457=
XM_017019552.2:c.1279C=	XP_016875041.1:p.Arg427=
XM_017019553.2:c.1279C=	XP_016875042.1:p.Arg427=
XM_017019554.1:c.1408C=	XP_016875043.1:p.Arg470=
XR_001748795.1:n.1588C=
XR_001748796.1:n.1570C=
NM_018171.4:c.1408C=	NP_060641.2:p.Arg470=
NM_018171.5:c.1408C= MANE Select	NP_060641.2:p.Arg470=
NM_001251904.2:c.1426C=	NP_001238833.1:p.Arg476=
NM_001251905.2:c.1279C=	NP_001238834.1:p.Arg427=