Canonical Allele Identifier: CA2026360233
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796211C= , CM000674.2:g.32796211C= GRCh38
NC_000012.11:g.32949145C= , CM000674.1:g.32949145C= GRCh37
NC_000012.10:g.32840412C= NCBI36
NG_009000.1:g.105636G= , LRG_398:g.105636G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.758G=
ENST00000700557.2:n.347G=
ENST00000700559.2:c.2168-3480G= ENSP00000515065.2:n.2168-3480G=
ENST00000546498.2:n.942G=
ENST00000549461.2:n.747G=
ENST00000700555.1:c.686G= ENSP00000515062.1:p.Cys229=
ENST00000700556.1:c.726G=
ENST00000700557.1:c.266G= ENSP00000515064.1:p.Cys89=
ENST00000700558.1:n.469G=
ENST00000700559.1:c.1383-3480G=
ENST00000700560.1:n.1470G=
ENST00000700561.1:n.1596G=
ENST00000070846.11:c.2387G= ENSP00000070846.6:p.Cys796=
ENST00000340811.9:c.2255G= MANE Select ENSP00000342800.5:p.Cys752=
ENST00000070846.10:c.2387G= ENSP00000070846.6:p.Cys796=
ENST00000340811.8:c.2255G= ENSP00000342800.4:p.Cys752=
ENST00000613243.1:c.2387G= ENSP00000478295.1:p.Cys796=
NM_001005242.2:c.2255G= NP_001005242.2:p.Cys752=
NM_004572.3:c.2387G= , LRG_398t1:c.2387G= NP_004563.2:p.Cys796=
NM_001005242.3:c.2255G= MANE Select NP_001005242.2:p.Cys752=
NM_004572.4:c.2387G= NP_004563.2:p.Cys796=