Canonical Allele Identifier: CA2060497525

Gene: APPL2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189779T= , CM000674.2:g.105189779T=	GRCh38
NC_000012.11:g.105583557T= , CM000674.1:g.105583557T=	GRCh37
NC_000012.10:g.104107687T=	NCBI36
NG_030419.1:g.51452A=

Transcript Alleles

HGVS	Amino-acid Change
NM_018171.5:c.1452A= MANE Select	NP_060641.2:p.Glu484=
ENST00000258530.8:c.1452A= MANE Select	ENSP00000258530.3:p.Glu484=
NM_001251904.1:c.1470A=	NP_001238833.1:p.Glu490=
NM_001251904.2:c.1470A=	NP_001238833.1:p.Glu490=
NM_001251905.1:c.1323A=	NP_001238834.1:p.Glu441=
NM_001251905.2:c.1323A=	NP_001238834.1:p.Glu441=
NM_018171.3:c.1452A=	NP_060641.2:p.Glu484=
NM_018171.4:c.1452A=	NP_060641.2:p.Glu484=
ENST00000258530.7:c.1452A=	ENSP00000258530.3:p.Glu484=
ENST00000539978.6:c.1323A=	ENSP00000444472.2:p.Glu441=
ENST00000547439.5:c.*737A=	ENSP00000449410.1:n.*737A=
ENST00000547809.5:n.1462A=
ENST00000551662.5:c.1470A=	ENSP00000446917.1:p.Glu490=
ENST00000552945.1:n.292A=
ENST00000553109.1:c.96A=	ENSP00000446510.1:p.Glu32=
XM_006719472.1:c.1470A=	XP_006719535.1:p.Glu490=
XM_011538530.1:c.1431A=	XP_011536832.1:p.Glu477=
XM_011538530.3:c.1431A=	XP_011536832.1:p.Glu477=
XM_011538531.1:c.1341A=	XP_011536833.1:p.Glu447=
XM_011538531.3:c.1341A=	XP_011536833.1:p.Glu447=
XM_011538532.1:c.1341A=	XP_011536834.1:p.Glu447=
XM_011538532.3:c.1341A=	XP_011536834.1:p.Glu447=
XM_017019551.2:c.1413A=	XP_016875040.1:p.Glu471=
XM_017019552.2:c.1323A=	XP_016875041.1:p.Glu441=
XM_017019553.2:c.1323A=	XP_016875042.1:p.Glu441=
XM_017019554.1:c.1452A=	XP_016875043.1:p.Glu484=
XR_001748795.1:n.1632A=
XR_001748796.1:n.1614A=