Canonical Allele Identifier: CA6759564

Gene: APPL2

Linked Data

• dbSNP Id: rs758381619
• ExAC: 12:105583832 G / A
• gnomAD v2: 12-105583832-G-A
• gnomAD v4: 12-105190054-G-A
• MyVariant Identifiers: chr12:g.105583832G>A (hg19) ; chr12:g.105190054G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105190054G>A , CM000674.2:g.105190054G>A	GRCh38
NC_000012.11:g.105583832G>A , CM000674.1:g.105583832G>A	GRCh37
NC_000012.10:g.104107962G>A	NCBI36
NG_030419.1:g.51177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258530.8:c.1343C>T MANE Select	ENSP00000258530.3:p.Thr448Met
ENST00000258530.7:c.1343C>T	ENSP00000258530.3:p.Thr448Met
ENST00000539978.6:c.1214C>T	ENSP00000444472.2:p.Thr405Met
ENST00000547439.5:c.*628C>T	ENSP00000449410.1:n.*628C>T
ENST00000547809.5:n.1353C>T
ENST00000551662.5:c.1361C>T	ENSP00000446917.1:p.Thr454Met
ENST00000552945.1:n.118C>T
NM_001251904.1:c.1361C>T	NP_001238833.1:p.Thr454Met
NM_001251905.1:c.1214C>T	NP_001238834.1:p.Thr405Met
NM_018171.3:c.1343C>T	NP_060641.2:p.Thr448Met
XM_006719472.1:c.1361C>T	XP_006719535.1:p.Thr454Met
XM_011538530.1:c.1322C>T	XP_011536832.1:p.Thr441Met
XM_011538531.1:c.1232C>T	XP_011536833.1:p.Thr411Met
XM_011538532.1:c.1232C>T	XP_011536834.1:p.Thr411Met
XM_011538530.3:c.1322C>T	XP_011536832.1:p.Thr441Met
XM_011538531.3:c.1232C>T	XP_011536833.1:p.Thr411Met
XM_011538532.3:c.1232C>T	XP_011536834.1:p.Thr411Met
XM_017019551.2:c.1304C>T	XP_016875040.1:p.Thr435Met
XM_017019552.2:c.1214C>T	XP_016875041.1:p.Thr405Met
XM_017019553.2:c.1214C>T	XP_016875042.1:p.Thr405Met
XM_017019554.1:c.1343C>T	XP_016875043.1:p.Thr448Met
XR_001748795.1:n.1523C>T
XR_001748796.1:n.1505C>T
NM_018171.4:c.1343C>T	NP_060641.2:p.Thr448Met
NM_018171.5:c.1343C>T MANE Select	NP_060641.2:p.Thr448Met
NM_001251904.2:c.1361C>T	NP_001238833.1:p.Thr454Met
NM_001251905.2:c.1214C>T	NP_001238834.1:p.Thr405Met