Canonical Allele Identifier: CA2026374398
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32802523T= , CM000674.2:g.32802523T= GRCh38
NC_000012.11:g.32955457T= , CM000674.1:g.32955457T= GRCh37
NC_000012.10:g.32846724T= NCBI36
NG_009000.1:g.99324A= , LRG_398:g.99324A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.550A=
ENST00000700557.2:n.139A=
ENST00000700559.2:c.2047A= ENSP00000515065.2:p.Lys683=
ENST00000546498.2:n.734A=
ENST00000549461.2:n.586A=
ENST00000700555.1:c.478A= ENSP00000515062.1:p.Lys160=
ENST00000700556.1:c.518A=
ENST00000700557.1:c.58A= ENSP00000515064.1:p.Lys20=
ENST00000700558.1:n.261A=
ENST00000700559.1:c.1262A=
ENST00000700560.1:n.1262A=
ENST00000700561.1:n.1388A=
ENST00000070846.11:c.2179A= ENSP00000070846.6:p.Lys727=
ENST00000340811.9:c.2047A= MANE Select ENSP00000342800.5:p.Lys683=
ENST00000070846.10:c.2179A= ENSP00000070846.6:p.Lys727=
ENST00000340811.8:c.2047A= ENSP00000342800.4:p.Lys683=
ENST00000549461.1:n.493A=
ENST00000613243.1:c.2179A= ENSP00000478295.1:p.Lys727=
NM_001005242.2:c.2047A= NP_001005242.2:p.Lys683=
NM_004572.3:c.2179A= , LRG_398t1:c.2179A= NP_004563.2:p.Lys727=
NM_001005242.3:c.2047A= MANE Select NP_001005242.2:p.Lys683=
NM_004572.4:c.2179A= NP_004563.2:p.Lys727=