Canonical Allele Identifier: CA2026360225
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796207G= , CM000674.2:g.32796207G= GRCh38
NC_000012.11:g.32949141G= , CM000674.1:g.32949141G= GRCh37
NC_000012.10:g.32840408G= NCBI36
NG_009000.1:g.105640C= , LRG_398:g.105640C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.762C=
ENST00000700557.2:n.351C=
ENST00000700559.2:c.2168-3476C= ENSP00000515065.2:n.2168-3476C=
ENST00000546498.2:n.946C=
ENST00000549461.2:n.751C=
ENST00000700555.1:c.690C= ENSP00000515062.1:p.Tyr230=
ENST00000700556.1:c.730C=
ENST00000700557.1:c.270C= ENSP00000515064.1:p.Tyr90=
ENST00000700558.1:n.473C=
ENST00000700559.1:c.1383-3476C=
ENST00000700560.1:n.1474C=
ENST00000700561.1:n.1600C=
ENST00000070846.11:c.2391C= ENSP00000070846.6:p.Tyr797=
ENST00000340811.9:c.2259C= MANE Select ENSP00000342800.5:p.Tyr753=
ENST00000070846.10:c.2391C= ENSP00000070846.6:p.Tyr797=
ENST00000340811.8:c.2259C= ENSP00000342800.4:p.Tyr753=
ENST00000613243.1:c.2391C= ENSP00000478295.1:p.Tyr797=
NM_001005242.2:c.2259C= NP_001005242.2:p.Tyr753=
NM_004572.3:c.2391C= , LRG_398t1:c.2391C= NP_004563.2:p.Tyr797=
NM_001005242.3:c.2259C= MANE Select NP_001005242.2:p.Tyr753=
NM_004572.4:c.2391C= NP_004563.2:p.Tyr797=