Canonical Allele Identifier: CA2026360422
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796265A= , CM000674.2:g.32796265A= GRCh38
NC_000012.11:g.32949199A= , CM000674.1:g.32949199A= GRCh37
NC_000012.10:g.32840466A= NCBI36
NG_009000.1:g.105582T= , LRG_398:g.105582T=

Transcript Alleles

HGVS Amino-acid change
ENST00000700555.2:n.704T=
ENST00000700557.2:n.293T=
ENST00000700559.2:c.2168-3534T= ENSP00000515065.2:n.2168-3534T=
ENST00000546498.2:n.888T=
ENST00000549461.2:n.693T=
ENST00000700555.1:c.632T= ENSP00000515062.1:p.Ile211=
ENST00000700556.1:c.672T=
ENST00000700557.1:c.212T= ENSP00000515064.1:p.Ile71=
ENST00000700558.1:n.415T=
ENST00000700559.1:c.1383-3534T=
ENST00000700560.1:n.1416T=
ENST00000700561.1:n.1542T=
ENST00000070846.11:c.2333T= ENSP00000070846.6:p.Ile778=
ENST00000340811.9:c.2201T= MANE Select ENSP00000342800.5:p.Ile734=
ENST00000070846.10:c.2333T= ENSP00000070846.6:p.Ile778=
ENST00000340811.8:c.2201T= ENSP00000342800.4:p.Ile734=
ENST00000613243.1:c.2333T= ENSP00000478295.1:p.Ile778=
NM_001005242.2:c.2201T= NP_001005242.2:p.Ile734=
NM_004572.3:c.2333T= , LRG_398t1:c.2333T= NP_004563.2:p.Ile778=
NM_001005242.3:c.2201T= MANE Select NP_001005242.2:p.Ile734=
NM_004572.4:c.2333T= NP_004563.2:p.Ile778=