Canonical Allele Identifier: CA386375881

Gene: APPL2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189787A>C , CM000674.2:g.105189787A>C	GRCh38
NC_000012.11:g.105583565A>C , CM000674.1:g.105583565A>C	GRCh37
NC_000012.10:g.104107695A>C	NCBI36
NG_030419.1:g.51444T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258530.8:c.1444T>G MANE Select	ENSP00000258530.3:p.Phe482Val
ENST00000258530.7:c.1444T>G	ENSP00000258530.3:p.Phe482Val
ENST00000539978.6:c.1315T>G	ENSP00000444472.2:p.Phe439Val
ENST00000547439.5:c.*729T>G	ENSP00000449410.1:n.*729T>G
ENST00000547809.5:n.1454T>G
ENST00000551662.5:c.1462T>G	ENSP00000446917.1:p.Phe488Val
ENST00000552945.1:n.284T>G
ENST00000553109.1:c.88T>G	ENSP00000446510.1:p.Phe30Val
NM_001251904.1:c.1462T>G	NP_001238833.1:p.Phe488Val
NM_001251905.1:c.1315T>G	NP_001238834.1:p.Phe439Val
NM_018171.3:c.1444T>G	NP_060641.2:p.Phe482Val
XM_006719472.1:c.1462T>G	XP_006719535.1:p.Phe488Val
XM_011538530.1:c.1423T>G	XP_011536832.1:p.Phe475Val
XM_011538531.1:c.1333T>G	XP_011536833.1:p.Phe445Val
XM_011538532.1:c.1333T>G	XP_011536834.1:p.Phe445Val
XM_011538530.3:c.1423T>G	XP_011536832.1:p.Phe475Val
XM_011538531.3:c.1333T>G	XP_011536833.1:p.Phe445Val
XM_011538532.3:c.1333T>G	XP_011536834.1:p.Phe445Val
XM_017019551.2:c.1405T>G	XP_016875040.1:p.Phe469Val
XM_017019552.2:c.1315T>G	XP_016875041.1:p.Phe439Val
XM_017019553.2:c.1315T>G	XP_016875042.1:p.Phe439Val
XM_017019554.1:c.1444T>G	XP_016875043.1:p.Phe482Val
XR_001748795.1:n.1624T>G
XR_001748796.1:n.1606T>G
NM_018171.4:c.1444T>G	NP_060641.2:p.Phe482Val
NM_018171.5:c.1444T>G MANE Select	NP_060641.2:p.Phe482Val
NM_001251904.2:c.1462T>G	NP_001238833.1:p.Phe488Val
NM_001251905.2:c.1315T>G	NP_001238834.1:p.Phe439Val