Canonical Allele Identifier: CA2026360506
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796280T= , CM000674.2:g.32796280T= GRCh38
NC_000012.11:g.32949214T= , CM000674.1:g.32949214T= GRCh37
NC_000012.10:g.32840481T= NCBI36
NG_009000.1:g.105567A= , LRG_398:g.105567A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.689A=
ENST00000700557.2:n.278A=
ENST00000700559.2:c.2168-3549A= ENSP00000515065.2:n.2168-3549A=
ENST00000546498.2:n.873A=
ENST00000549461.2:n.678A=
ENST00000700555.1:c.617A= ENSP00000515062.1:p.Asp206=
ENST00000700556.1:c.657A=
ENST00000700557.1:c.197A= ENSP00000515064.1:p.Asp66=
ENST00000700558.1:n.400A=
ENST00000700559.1:c.1383-3549A=
ENST00000700560.1:n.1401A=
ENST00000700561.1:n.1527A=
ENST00000070846.11:c.2318A= ENSP00000070846.6:p.Asp773=
ENST00000340811.9:c.2186A= MANE Select ENSP00000342800.5:p.Asp729=
ENST00000070846.10:c.2318A= ENSP00000070846.6:p.Asp773=
ENST00000340811.8:c.2186A= ENSP00000342800.4:p.Asp729=
ENST00000613243.1:c.2318A= ENSP00000478295.1:p.Asp773=
NM_001005242.2:c.2186A= NP_001005242.2:p.Asp729=
NM_004572.3:c.2318A= , LRG_398t1:c.2318A= NP_004563.2:p.Asp773=
NM_001005242.3:c.2186A= MANE Select NP_001005242.2:p.Asp729=
NM_004572.4:c.2318A= NP_004563.2:p.Asp773=