Canonical Allele Identifier: CA2060497540

Gene: APPL2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189824C= , CM000674.2:g.105189824C=	GRCh38
NC_000012.11:g.105583602C= , CM000674.1:g.105583602C=	GRCh37
NC_000012.10:g.104107732C=	NCBI36
NG_030419.1:g.51407G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000258530.8:c.1407G= MANE Select	ENSP00000258530.3:p.Arg469=
ENST00000258530.7:c.1407G=	ENSP00000258530.3:p.Arg469=
ENST00000539978.6:c.1278G=	ENSP00000444472.2:p.Arg426=
ENST00000547439.5:c.*692G=	ENSP00000449410.1:n.*692G=
ENST00000547809.5:n.1417G=
ENST00000551662.5:c.1425G=	ENSP00000446917.1:p.Arg475=
ENST00000552945.1:n.247G=
ENST00000553109.1:c.51G=	ENSP00000446510.1:p.Arg17=
NM_001251904.1:c.1425G=	NP_001238833.1:p.Arg475=
NM_001251905.1:c.1278G=	NP_001238834.1:p.Arg426=
NM_018171.3:c.1407G=	NP_060641.2:p.Arg469=
XM_006719472.1:c.1425G=	XP_006719535.1:p.Arg475=
XM_011538530.1:c.1386G=	XP_011536832.1:p.Arg462=
XM_011538531.1:c.1296G=	XP_011536833.1:p.Arg432=
XM_011538532.1:c.1296G=	XP_011536834.1:p.Arg432=
XM_011538530.3:c.1386G=	XP_011536832.1:p.Arg462=
XM_011538531.3:c.1296G=	XP_011536833.1:p.Arg432=
XM_011538532.3:c.1296G=	XP_011536834.1:p.Arg432=
XM_017019551.2:c.1368G=	XP_016875040.1:p.Arg456=
XM_017019552.2:c.1278G=	XP_016875041.1:p.Arg426=
XM_017019553.2:c.1278G=	XP_016875042.1:p.Arg426=
XM_017019554.1:c.1407G=	XP_016875043.1:p.Arg469=
XR_001748795.1:n.1587G=
XR_001748796.1:n.1569G=
NM_018171.4:c.1407G=	NP_060641.2:p.Arg469=
NM_018171.5:c.1407G= MANE Select	NP_060641.2:p.Arg469=
NM_001251904.2:c.1425G=	NP_001238833.1:p.Arg475=
NM_001251905.2:c.1278G=	NP_001238834.1:p.Arg426=