Canonical Allele Identifier: CA242650176

Gene: APPL2

Linked Data

• dbSNP Id: rs749002647
• MyVariant Identifiers: chr12:g.105583600C>A (hg19) ; chr12:g.105189822C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189822C>A , CM000674.2:g.105189822C>A	GRCh38
NC_000012.11:g.105583600C>A , CM000674.1:g.105583600C>A	GRCh37
NC_000012.10:g.104107730C>A	NCBI36
NG_030419.1:g.51409G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258530.8:c.1409G>T MANE Select	ENSP00000258530.3:p.Arg470Leu
ENST00000258530.7:c.1409G>T	ENSP00000258530.3:p.Arg470Leu
ENST00000539978.6:c.1280G>T	ENSP00000444472.2:p.Arg427Leu
ENST00000547439.5:c.*694G>T	ENSP00000449410.1:n.*694G>T
ENST00000547809.5:n.1419G>T
ENST00000551662.5:c.1427G>T	ENSP00000446917.1:p.Arg476Leu
ENST00000552945.1:n.249G>T
ENST00000553109.1:c.53G>T	ENSP00000446510.1:p.Arg18Leu
NM_001251904.1:c.1427G>T	NP_001238833.1:p.Arg476Leu
NM_001251905.1:c.1280G>T	NP_001238834.1:p.Arg427Leu
NM_018171.3:c.1409G>T	NP_060641.2:p.Arg470Leu
XM_006719472.1:c.1427G>T	XP_006719535.1:p.Arg476Leu
XM_011538530.1:c.1388G>T	XP_011536832.1:p.Arg463Leu
XM_011538531.1:c.1298G>T	XP_011536833.1:p.Arg433Leu
XM_011538532.1:c.1298G>T	XP_011536834.1:p.Arg433Leu
XM_011538530.3:c.1388G>T	XP_011536832.1:p.Arg463Leu
XM_011538531.3:c.1298G>T	XP_011536833.1:p.Arg433Leu
XM_011538532.3:c.1298G>T	XP_011536834.1:p.Arg433Leu
XM_017019551.2:c.1370G>T	XP_016875040.1:p.Arg457Leu
XM_017019552.2:c.1280G>T	XP_016875041.1:p.Arg427Leu
XM_017019553.2:c.1280G>T	XP_016875042.1:p.Arg427Leu
XM_017019554.1:c.1409G>T	XP_016875043.1:p.Arg470Leu
XR_001748795.1:n.1589G>T
XR_001748796.1:n.1571G>T
NM_018171.4:c.1409G>T	NP_060641.2:p.Arg470Leu
NM_018171.5:c.1409G>T MANE Select	NP_060641.2:p.Arg470Leu
NM_001251904.2:c.1427G>T	NP_001238833.1:p.Arg476Leu
NM_001251905.2:c.1280G>T	NP_001238834.1:p.Arg427Leu