Canonical Allele Identifier: CA386376029

Gene: APPL2

Linked Data

• MyVariant Identifiers: chr12:g.105583591G>A (hg19) ; chr12:g.105189813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189813G>A , CM000674.2:g.105189813G>A	GRCh38
NC_000012.11:g.105583591G>A , CM000674.1:g.105583591G>A	GRCh37
NC_000012.10:g.104107721G>A	NCBI36
NG_030419.1:g.51418C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258530.8:c.1418C>T MANE Select	ENSP00000258530.3:p.Pro473Leu
ENST00000258530.7:c.1418C>T	ENSP00000258530.3:p.Pro473Leu
ENST00000539978.6:c.1289C>T	ENSP00000444472.2:p.Pro430Leu
ENST00000547439.5:c.*703C>T	ENSP00000449410.1:n.*703C>T
ENST00000547809.5:n.1428C>T
ENST00000551662.5:c.1436C>T	ENSP00000446917.1:p.Pro479Leu
ENST00000552945.1:n.258C>T
ENST00000553109.1:c.62C>T	ENSP00000446510.1:p.Pro21Leu
NM_001251904.1:c.1436C>T	NP_001238833.1:p.Pro479Leu
NM_001251905.1:c.1289C>T	NP_001238834.1:p.Pro430Leu
NM_018171.3:c.1418C>T	NP_060641.2:p.Pro473Leu
XM_006719472.1:c.1436C>T	XP_006719535.1:p.Pro479Leu
XM_011538530.1:c.1397C>T	XP_011536832.1:p.Pro466Leu
XM_011538531.1:c.1307C>T	XP_011536833.1:p.Pro436Leu
XM_011538532.1:c.1307C>T	XP_011536834.1:p.Pro436Leu
XM_011538530.3:c.1397C>T	XP_011536832.1:p.Pro466Leu
XM_011538531.3:c.1307C>T	XP_011536833.1:p.Pro436Leu
XM_011538532.3:c.1307C>T	XP_011536834.1:p.Pro436Leu
XM_017019551.2:c.1379C>T	XP_016875040.1:p.Pro460Leu
XM_017019552.2:c.1289C>T	XP_016875041.1:p.Pro430Leu
XM_017019553.2:c.1289C>T	XP_016875042.1:p.Pro430Leu
XM_017019554.1:c.1418C>T	XP_016875043.1:p.Pro473Leu
XR_001748795.1:n.1598C>T
XR_001748796.1:n.1580C>T
NM_018171.4:c.1418C>T	NP_060641.2:p.Pro473Leu
NM_018171.5:c.1418C>T MANE Select	NP_060641.2:p.Pro473Leu
NM_001251904.2:c.1436C>T	NP_001238833.1:p.Pro479Leu
NM_001251905.2:c.1289C>T	NP_001238834.1:p.Pro430Leu