Canonical Allele Identifier: CA481640212

Gene: APPL2

Linked Data

• MyVariant Identifiers: chr12:g.105583834T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105190056T>C , CM000674.2:g.105190056T>C	GRCh38
NC_000012.11:g.105583834T>C , CM000674.1:g.105583834T>C	GRCh37
NC_000012.10:g.104107964T>C	NCBI36
NG_030419.1:g.51175A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258530.8:c.1341A>G MANE Select	ENSP00000258530.3:p.Gly447=
ENST00000258530.7:c.1341A>G	ENSP00000258530.3:p.Gly447=
ENST00000539978.6:c.1212A>G	ENSP00000444472.2:p.Gly404=
ENST00000547439.5:c.*626A>G	ENSP00000449410.1:n.*626A>G
ENST00000547809.5:n.1351A>G
ENST00000551662.5:c.1359A>G	ENSP00000446917.1:p.Gly453=
ENST00000552945.1:n.116A>G
NM_001251904.1:c.1359A>G	NP_001238833.1:p.Gly453=
NM_001251905.1:c.1212A>G	NP_001238834.1:p.Gly404=
NM_018171.3:c.1341A>G	NP_060641.2:p.Gly447=
XM_006719472.1:c.1359A>G	XP_006719535.1:p.Gly453=
XM_011538530.1:c.1320A>G	XP_011536832.1:p.Gly440=
XM_011538531.1:c.1230A>G	XP_011536833.1:p.Gly410=
XM_011538532.1:c.1230A>G	XP_011536834.1:p.Gly410=
XM_011538530.3:c.1320A>G	XP_011536832.1:p.Gly440=
XM_011538531.3:c.1230A>G	XP_011536833.1:p.Gly410=
XM_011538532.3:c.1230A>G	XP_011536834.1:p.Gly410=
XM_017019551.2:c.1302A>G	XP_016875040.1:p.Gly434=
XM_017019552.2:c.1212A>G	XP_016875041.1:p.Gly404=
XM_017019553.2:c.1212A>G	XP_016875042.1:p.Gly404=
XM_017019554.1:c.1341A>G	XP_016875043.1:p.Gly447=
XR_001748795.1:n.1521A>G
XR_001748796.1:n.1503A>G
NM_018171.4:c.1341A>G	NP_060641.2:p.Gly447=
NM_018171.5:c.1341A>G MANE Select	NP_060641.2:p.Gly447=
NM_001251904.2:c.1359A>G	NP_001238833.1:p.Gly453=
NM_001251905.2:c.1212A>G	NP_001238834.1:p.Gly404=