Canonical Allele Identifier: CA2026373169
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32841047T= , CM000674.2:g.32841047T= GRCh38
NC_000012.11:g.32993981T= , CM000674.1:g.32993981T= GRCh37
NC_000012.10:g.32885248T= NCBI36
NG_009000.1:g.60800A= , LRG_398:g.60800A=

Transcript Alleles

HGVS Amino-acid change
ENST00000700559.2:c.1537A= ENSP00000515065.2:p.Asn513=
ENST00000700563.2:c.1537A= ENSP00000515066.2:p.Asn513=
ENST00000700556.1:c.8A=
ENST00000700559.1:c.752A=
ENST00000700560.1:n.752A=
ENST00000700561.1:n.878A=
ENST00000700563.1:c.1491A=
ENST00000700564.1:n.1541A=
ENST00000700565.1:n.1390A=
ENST00000070846.11:c.1669A= ENSP00000070846.6:p.Asn557=
ENST00000340811.9:c.1537A= MANE Select ENSP00000342800.5:p.Asn513=
ENST00000070846.10:c.1669A= ENSP00000070846.6:p.Asn557=
ENST00000340811.8:c.1537A= ENSP00000342800.4:p.Asn513=
ENST00000613243.1:c.1669A= ENSP00000478295.1:p.Asn557=
NM_001005242.2:c.1537A= NP_001005242.2:p.Asn513=
NM_004572.3:c.1669A= , LRG_398t1:c.1669A= NP_004563.2:p.Asn557=
NM_001005242.3:c.1537A= MANE Select NP_001005242.2:p.Asn513=
NM_004572.4:c.1669A= NP_004563.2:p.Asn557=