Canonical Allele Identifier: CA2060497644

Gene: APPL2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105190040C= , CM000674.2:g.105190040C=	GRCh38
NC_000012.11:g.105583818C= , CM000674.1:g.105583818C=	GRCh37
NC_000012.10:g.104107948C=	NCBI36
NG_030419.1:g.51191G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258530.8:c.1357G= MANE Select	ENSP00000258530.3:p.Asp453=
ENST00000258530.7:c.1357G=	ENSP00000258530.3:p.Asp453=
ENST00000539978.6:c.1228G=	ENSP00000444472.2:p.Asp410=
ENST00000547439.5:c.*642G=	ENSP00000449410.1:n.*642G=
ENST00000547809.5:n.1367G=
ENST00000551662.5:c.1375G=	ENSP00000446917.1:p.Asp459=
ENST00000552945.1:n.132G=
ENST00000553109.1:c.1G=	ENSP00000446510.1:p.Asp1=
NM_001251904.1:c.1375G=	NP_001238833.1:p.Asp459=
NM_001251905.1:c.1228G=	NP_001238834.1:p.Asp410=
NM_018171.3:c.1357G=	NP_060641.2:p.Asp453=
XM_006719472.1:c.1375G=	XP_006719535.1:p.Asp459=
XM_011538530.1:c.1336G=	XP_011536832.1:p.Asp446=
XM_011538531.1:c.1246G=	XP_011536833.1:p.Asp416=
XM_011538532.1:c.1246G=	XP_011536834.1:p.Asp416=
XM_011538530.3:c.1336G=	XP_011536832.1:p.Asp446=
XM_011538531.3:c.1246G=	XP_011536833.1:p.Asp416=
XM_011538532.3:c.1246G=	XP_011536834.1:p.Asp416=
XM_017019551.2:c.1318G=	XP_016875040.1:p.Asp440=
XM_017019552.2:c.1228G=	XP_016875041.1:p.Asp410=
XM_017019553.2:c.1228G=	XP_016875042.1:p.Asp410=
XM_017019554.1:c.1357G=	XP_016875043.1:p.Asp453=
XR_001748795.1:n.1537G=
XR_001748796.1:n.1519G=
NM_018171.4:c.1357G=	NP_060641.2:p.Asp453=
NM_018171.5:c.1357G= MANE Select	NP_060641.2:p.Asp453=
NM_001251904.2:c.1375G=	NP_001238833.1:p.Asp459=
NM_001251905.2:c.1228G=	NP_001238834.1:p.Asp410=