Canonical Allele Identifier: CA481640215

Gene: APPL2

Linked Data

• MyVariant Identifiers: chr12:g.105583837A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105190059A>T , CM000674.2:g.105190059A>T	GRCh38
NC_000012.11:g.105583837A>T , CM000674.1:g.105583837A>T	GRCh37
NC_000012.10:g.104107967A>T	NCBI36
NG_030419.1:g.51172T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258530.8:c.1338T>A MANE Select	ENSP00000258530.3:p.Pro446=
ENST00000258530.7:c.1338T>A	ENSP00000258530.3:p.Pro446=
ENST00000539978.6:c.1209T>A	ENSP00000444472.2:p.Pro403=
ENST00000547439.5:c.*623T>A	ENSP00000449410.1:n.*623T>A
ENST00000547809.5:n.1348T>A
ENST00000551662.5:c.1356T>A	ENSP00000446917.1:p.Pro452=
ENST00000552945.1:n.113T>A
NM_001251904.1:c.1356T>A	NP_001238833.1:p.Pro452=
NM_001251905.1:c.1209T>A	NP_001238834.1:p.Pro403=
NM_018171.3:c.1338T>A	NP_060641.2:p.Pro446=
XM_006719472.1:c.1356T>A	XP_006719535.1:p.Pro452=
XM_011538530.1:c.1317T>A	XP_011536832.1:p.Pro439=
XM_011538531.1:c.1227T>A	XP_011536833.1:p.Pro409=
XM_011538532.1:c.1227T>A	XP_011536834.1:p.Pro409=
XM_011538530.3:c.1317T>A	XP_011536832.1:p.Pro439=
XM_011538531.3:c.1227T>A	XP_011536833.1:p.Pro409=
XM_011538532.3:c.1227T>A	XP_011536834.1:p.Pro409=
XM_017019551.2:c.1299T>A	XP_016875040.1:p.Pro433=
XM_017019552.2:c.1209T>A	XP_016875041.1:p.Pro403=
XM_017019553.2:c.1209T>A	XP_016875042.1:p.Pro403=
XM_017019554.1:c.1338T>A	XP_016875043.1:p.Pro446=
XR_001748795.1:n.1518T>A
XR_001748796.1:n.1500T>A
NM_018171.4:c.1338T>A	NP_060641.2:p.Pro446=
NM_018171.5:c.1338T>A MANE Select	NP_060641.2:p.Pro446=
NM_001251904.2:c.1356T>A	NP_001238833.1:p.Pro452=
NM_001251905.2:c.1209T>A	NP_001238834.1:p.Pro403=