Canonical Allele Identifier: CA386376101

Gene: APPL2

Linked Data

• COSMIC: COSM6324138
• MyVariant Identifiers: chr12:g.105583602C>A (hg19) ; chr12:g.105189824C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000258530.8:c.1407G>T MANE Select	ENSP00000258530.3:p.Arg469Ser
ENST00000258530.7:c.1407G>T	ENSP00000258530.3:p.Arg469Ser
ENST00000539978.6:c.1278G>T	ENSP00000444472.2:p.Arg426Ser
ENST00000547439.5:c.*692G>T	ENSP00000449410.1:n.*692G>T
ENST00000547809.5:n.1417G>T
ENST00000551662.5:c.1425G>T	ENSP00000446917.1:p.Arg475Ser
ENST00000552945.1:n.247G>T
ENST00000553109.1:c.51G>T	ENSP00000446510.1:p.Arg17Ser
NM_001251904.1:c.1425G>T	NP_001238833.1:p.Arg475Ser
NM_001251905.1:c.1278G>T	NP_001238834.1:p.Arg426Ser
NM_018171.3:c.1407G>T	NP_060641.2:p.Arg469Ser
XM_006719472.1:c.1425G>T	XP_006719535.1:p.Arg475Ser
XM_011538530.1:c.1386G>T	XP_011536832.1:p.Arg462Ser
XM_011538531.1:c.1296G>T	XP_011536833.1:p.Arg432Ser
XM_011538532.1:c.1296G>T	XP_011536834.1:p.Arg432Ser
XM_011538530.3:c.1386G>T	XP_011536832.1:p.Arg462Ser
XM_011538531.3:c.1296G>T	XP_011536833.1:p.Arg432Ser
XM_011538532.3:c.1296G>T	XP_011536834.1:p.Arg432Ser
XM_017019551.2:c.1368G>T	XP_016875040.1:p.Arg456Ser
XM_017019552.2:c.1278G>T	XP_016875041.1:p.Arg426Ser
XM_017019553.2:c.1278G>T	XP_016875042.1:p.Arg426Ser
XM_017019554.1:c.1407G>T	XP_016875043.1:p.Arg469Ser
XR_001748795.1:n.1587G>T
XR_001748796.1:n.1569G>T
NM_018171.4:c.1407G>T	NP_060641.2:p.Arg469Ser
NM_018171.5:c.1407G>T MANE Select	NP_060641.2:p.Arg469Ser
NM_001251904.2:c.1425G>T	NP_001238833.1:p.Arg475Ser
NM_001251905.2:c.1278G>T	NP_001238834.1:p.Arg426Ser