Canonical Allele Identifier: CA386375826

Gene: APPL2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189777G>T , CM000674.2:g.105189777G>T	GRCh38
NC_000012.11:g.105583555G>T , CM000674.1:g.105583555G>T	GRCh37
NC_000012.10:g.104107685G>T	NCBI36
NG_030419.1:g.51454C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018171.5:c.1454C>A MANE Select	NP_060641.2:p.Ala485Glu
ENST00000258530.8:c.1454C>A MANE Select	ENSP00000258530.3:p.Ala485Glu
NM_001251904.1:c.1472C>A	NP_001238833.1:p.Ala491Glu
NM_001251904.2:c.1472C>A	NP_001238833.1:p.Ala491Glu
NM_001251905.1:c.1325C>A	NP_001238834.1:p.Ala442Glu
NM_001251905.2:c.1325C>A	NP_001238834.1:p.Ala442Glu
NM_018171.3:c.1454C>A	NP_060641.2:p.Ala485Glu
NM_018171.4:c.1454C>A	NP_060641.2:p.Ala485Glu
ENST00000258530.7:c.1454C>A	ENSP00000258530.3:p.Ala485Glu
ENST00000539978.6:c.1325C>A	ENSP00000444472.2:p.Ala442Glu
ENST00000547439.5:c.*739C>A	ENSP00000449410.1:n.*739C>A
ENST00000547809.5:n.1464C>A
ENST00000551662.5:c.1472C>A	ENSP00000446917.1:p.Ala491Glu
ENST00000552945.1:n.294C>A
ENST00000553109.1:c.98C>A	ENSP00000446510.1:p.Ala33Glu
XM_006719472.1:c.1472C>A	XP_006719535.1:p.Ala491Glu
XM_011538530.1:c.1433C>A	XP_011536832.1:p.Ala478Glu
XM_011538530.3:c.1433C>A	XP_011536832.1:p.Ala478Glu
XM_011538531.1:c.1343C>A	XP_011536833.1:p.Ala448Glu
XM_011538531.3:c.1343C>A	XP_011536833.1:p.Ala448Glu
XM_011538532.1:c.1343C>A	XP_011536834.1:p.Ala448Glu
XM_011538532.3:c.1343C>A	XP_011536834.1:p.Ala448Glu
XM_017019551.2:c.1415C>A	XP_016875040.1:p.Ala472Glu
XM_017019552.2:c.1325C>A	XP_016875041.1:p.Ala442Glu
XM_017019553.2:c.1325C>A	XP_016875042.1:p.Ala442Glu
XM_017019554.1:c.1454C>A	XP_016875043.1:p.Ala485Glu
XR_001748795.1:n.1634C>A
XR_001748796.1:n.1616C>A