Canonical Allele Identifier: CA386375882

Gene: APPL2

Linked Data

• MyVariant Identifiers: chr12:g.105583565A>G (hg19) ; chr12:g.105189787A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258530.8:c.1444T>C MANE Select	ENSP00000258530.3:p.Phe482Leu
ENST00000258530.7:c.1444T>C	ENSP00000258530.3:p.Phe482Leu
ENST00000539978.6:c.1315T>C	ENSP00000444472.2:p.Phe439Leu
ENST00000547439.5:c.*729T>C	ENSP00000449410.1:n.*729T>C
ENST00000547809.5:n.1454T>C
ENST00000551662.5:c.1462T>C	ENSP00000446917.1:p.Phe488Leu
ENST00000552945.1:n.284T>C
ENST00000553109.1:c.88T>C	ENSP00000446510.1:p.Phe30Leu
NM_001251904.1:c.1462T>C	NP_001238833.1:p.Phe488Leu
NM_001251905.1:c.1315T>C	NP_001238834.1:p.Phe439Leu
NM_018171.3:c.1444T>C	NP_060641.2:p.Phe482Leu
XM_006719472.1:c.1462T>C	XP_006719535.1:p.Phe488Leu
XM_011538530.1:c.1423T>C	XP_011536832.1:p.Phe475Leu
XM_011538531.1:c.1333T>C	XP_011536833.1:p.Phe445Leu
XM_011538532.1:c.1333T>C	XP_011536834.1:p.Phe445Leu
XM_011538530.3:c.1423T>C	XP_011536832.1:p.Phe475Leu
XM_011538531.3:c.1333T>C	XP_011536833.1:p.Phe445Leu
XM_011538532.3:c.1333T>C	XP_011536834.1:p.Phe445Leu
XM_017019551.2:c.1405T>C	XP_016875040.1:p.Phe469Leu
XM_017019552.2:c.1315T>C	XP_016875041.1:p.Phe439Leu
XM_017019553.2:c.1315T>C	XP_016875042.1:p.Phe439Leu
XM_017019554.1:c.1444T>C	XP_016875043.1:p.Phe482Leu
XR_001748795.1:n.1624T>C
XR_001748796.1:n.1606T>C
NM_018171.4:c.1444T>C	NP_060641.2:p.Phe482Leu
NM_018171.5:c.1444T>C MANE Select	NP_060641.2:p.Phe482Leu
NM_001251904.2:c.1462T>C	NP_001238833.1:p.Phe488Leu
NM_001251905.2:c.1315T>C	NP_001238834.1:p.Phe439Leu