Canonical Allele Identifier: CA386376061

Gene: APPL2

Linked Data

• MyVariant Identifiers: chr12:g.105583597G>A (hg19) ; chr12:g.105189819G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189819G>A , CM000674.2:g.105189819G>A	GRCh38
NC_000012.11:g.105583597G>A , CM000674.1:g.105583597G>A	GRCh37
NC_000012.10:g.104107727G>A	NCBI36
NG_030419.1:g.51412C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258530.8:c.1412C>T MANE Select	ENSP00000258530.3:p.Thr471Ile
ENST00000258530.7:c.1412C>T	ENSP00000258530.3:p.Thr471Ile
ENST00000539978.6:c.1283C>T	ENSP00000444472.2:p.Thr428Ile
ENST00000547439.5:c.*697C>T	ENSP00000449410.1:n.*697C>T
ENST00000547809.5:n.1422C>T
ENST00000551662.5:c.1430C>T	ENSP00000446917.1:p.Thr477Ile
ENST00000552945.1:n.252C>T
ENST00000553109.1:c.56C>T	ENSP00000446510.1:p.Thr19Ile
NM_001251904.1:c.1430C>T	NP_001238833.1:p.Thr477Ile
NM_001251905.1:c.1283C>T	NP_001238834.1:p.Thr428Ile
NM_018171.3:c.1412C>T	NP_060641.2:p.Thr471Ile
XM_006719472.1:c.1430C>T	XP_006719535.1:p.Thr477Ile
XM_011538530.1:c.1391C>T	XP_011536832.1:p.Thr464Ile
XM_011538531.1:c.1301C>T	XP_011536833.1:p.Thr434Ile
XM_011538532.1:c.1301C>T	XP_011536834.1:p.Thr434Ile
XM_011538530.3:c.1391C>T	XP_011536832.1:p.Thr464Ile
XM_011538531.3:c.1301C>T	XP_011536833.1:p.Thr434Ile
XM_011538532.3:c.1301C>T	XP_011536834.1:p.Thr434Ile
XM_017019551.2:c.1373C>T	XP_016875040.1:p.Thr458Ile
XM_017019552.2:c.1283C>T	XP_016875041.1:p.Thr428Ile
XM_017019553.2:c.1283C>T	XP_016875042.1:p.Thr428Ile
XM_017019554.1:c.1412C>T	XP_016875043.1:p.Thr471Ile
XR_001748795.1:n.1592C>T
XR_001748796.1:n.1574C>T
NM_018171.4:c.1412C>T	NP_060641.2:p.Thr471Ile
NM_018171.5:c.1412C>T MANE Select	NP_060641.2:p.Thr471Ile
NM_001251904.2:c.1430C>T	NP_001238833.1:p.Thr477Ile
NM_001251905.2:c.1283C>T	NP_001238834.1:p.Thr428Ile