Canonical Allele Identifier: CA2060497677

Gene: APPL2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105190099G= , CM000674.2:g.105190099G=	GRCh38
NC_000012.11:g.105583877G= , CM000674.1:g.105583877G=	GRCh37
NC_000012.10:g.104108007G=	NCBI36
NG_030419.1:g.51132C=

Transcript Alleles

HGVS	Amino-acid Change
NM_018171.5:c.1298C= MANE Select	NP_060641.2:p.Ala433=
ENST00000258530.8:c.1298C= MANE Select	ENSP00000258530.3:p.Ala433=
NM_001251904.1:c.1316C=	NP_001238833.1:p.Ala439=
NM_001251904.2:c.1316C=	NP_001238833.1:p.Ala439=
NM_001251905.1:c.1169C=	NP_001238834.1:p.Ala390=
NM_001251905.2:c.1169C=	NP_001238834.1:p.Ala390=
NM_018171.3:c.1298C=	NP_060641.2:p.Ala433=
NM_018171.4:c.1298C=	NP_060641.2:p.Ala433=
ENST00000258530.7:c.1298C=	ENSP00000258530.3:p.Ala433=
ENST00000539978.6:c.1169C=	ENSP00000444472.2:p.Ala390=
ENST00000547439.5:c.*583C=	ENSP00000449410.1:n.*583C=
ENST00000547809.5:n.1308C=
ENST00000551662.5:c.1316C=	ENSP00000446917.1:p.Ala439=
ENST00000552945.1:n.73C=
XM_006719472.1:c.1316C=	XP_006719535.1:p.Ala439=
XM_011538530.1:c.1277C=	XP_011536832.1:p.Ala426=
XM_011538530.3:c.1277C=	XP_011536832.1:p.Ala426=
XM_011538531.1:c.1187C=	XP_011536833.1:p.Ala396=
XM_011538531.3:c.1187C=	XP_011536833.1:p.Ala396=
XM_011538532.1:c.1187C=	XP_011536834.1:p.Ala396=
XM_011538532.3:c.1187C=	XP_011536834.1:p.Ala396=
XM_017019551.2:c.1259C=	XP_016875040.1:p.Ala420=
XM_017019552.2:c.1169C=	XP_016875041.1:p.Ala390=
XM_017019553.2:c.1169C=	XP_016875042.1:p.Ala390=
XM_017019554.1:c.1298C=	XP_016875043.1:p.Ala433=
XR_001748795.1:n.1478C=
XR_001748796.1:n.1460C=