Canonical Allele Identifier: CA2060497403
Gene: APPL2 HGNC NCBI

Linked Data

dbSNP Id: rs1887013494

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.105189521_105189525dup , CM000674.2:g.105189521_105189525dup GRCh38
NC_000012.11:g.105583299_105583303dup , CM000674.1:g.105583299_105583303dup GRCh37
NC_000012.10:g.104107429_104107433dup NCBI36
NG_030419.1:g.51708_51712dup

Transcript Alleles

HGVS Amino-acid change
ENST00000258530.8:c.1459+249_1459+253dup MANE Select ENSP00000258530.3:n.1459+249_1459+253dup
ENST00000258530.7:c.1459+249_1459+253dup ENSP00000258530.3:n.1459+249_1459+253dup
ENST00000539978.6:c.1330+249_1330+253dup ENSP00000444472.2:n.1330+249_1330+253dup
ENST00000547439.5:c.*744+249_*744+253dup ENSP00000449410.1:n.*744+249_*744+253dup
ENST00000547809.5:n.1469+249_1469+253dup
ENST00000551662.5:c.1477+249_1477+253dup ENSP00000446917.1:n.1477+249_1477+253dup
ENST00000552945.1:n.299+249_299+253dup
ENST00000553109.1:c.103+249_103+253dup ENSP00000446510.1:n.103+249_103+253dup
NM_001251904.1:c.1477+249_1477+253dup NP_001238833.1:n.1477+249_1477+253dup
NM_001251905.1:c.1330+249_1330+253dup NP_001238834.1:n.1330+249_1330+253dup
NM_018171.3:c.1459+249_1459+253dup NP_060641.2:n.1459+249_1459+253dup
XM_006719472.1:c.1477+249_1477+253dup XP_006719535.1:n.1477+249_1477+253dup
XM_011538530.1:c.1438+249_1438+253dup XP_011536832.1:n.1438+249_1438+253dup
XM_011538531.1:c.1348+249_1348+253dup XP_011536833.1:n.1348+249_1348+253dup
XM_011538532.1:c.1348+249_1348+253dup XP_011536834.1:n.1348+249_1348+253dup
XM_011538530.3:c.1438+249_1438+253dup XP_011536832.1:n.1438+249_1438+253dup
XM_011538531.3:c.1348+249_1348+253dup XP_011536833.1:n.1348+249_1348+253dup
XM_011538532.3:c.1348+249_1348+253dup XP_011536834.1:n.1348+249_1348+253dup
XM_017019551.2:c.1420+249_1420+253dup XP_016875040.1:n.1420+249_1420+253dup
XM_017019552.2:c.1330+249_1330+253dup XP_016875041.1:n.1330+249_1330+253dup
XM_017019553.2:c.1330+249_1330+253dup XP_016875042.1:n.1330+249_1330+253dup
XM_017019554.1:c.1459+249_1459+253dup XP_016875043.1:n.1459+249_1459+253dup
XR_001748795.1:n.1639+249_1639+253dup
XR_001748796.1:n.1621+249_1621+253dup
NM_018171.4:c.1459+249_1459+253dup NP_060641.2:n.1459+249_1459+253dup
NM_018171.5:c.1459+249_1459+253dup MANE Select NP_060641.2:n.1459+249_1459+253dup
NM_001251904.2:c.1477+249_1477+253dup NP_001238833.1:n.1477+249_1477+253dup
NM_001251905.2:c.1330+249_1330+253dup NP_001238834.1:n.1330+249_1330+253dup