Canonical Allele Identifier: CA2026373178
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32841049T= , CM000674.2:g.32841049T= GRCh38
NC_000012.11:g.32993983T= , CM000674.1:g.32993983T= GRCh37
NC_000012.10:g.32885250T= NCBI36
NG_009000.1:g.60798A= , LRG_398:g.60798A=

Transcript Alleles

HGVS Amino-acid change
ENST00000700559.2:c.1535A= ENSP00000515065.2:p.Tyr512=
ENST00000700563.2:c.1535A= ENSP00000515066.2:p.Tyr512=
ENST00000700556.1:c.6A=
ENST00000700559.1:c.750A=
ENST00000700560.1:n.750A=
ENST00000700561.1:n.876A=
ENST00000700563.1:c.1489A=
ENST00000700564.1:n.1539A=
ENST00000700565.1:n.1388A=
ENST00000070846.11:c.1667A= ENSP00000070846.6:p.Tyr556=
ENST00000340811.9:c.1535A= MANE Select ENSP00000342800.5:p.Tyr512=
ENST00000070846.10:c.1667A= ENSP00000070846.6:p.Tyr556=
ENST00000340811.8:c.1535A= ENSP00000342800.4:p.Tyr512=
ENST00000613243.1:c.1667A= ENSP00000478295.1:p.Tyr556=
NM_001005242.2:c.1535A= NP_001005242.2:p.Tyr512=
NM_004572.3:c.1667A= , LRG_398t1:c.1667A= NP_004563.2:p.Tyr556=
NM_001005242.3:c.1535A= MANE Select NP_001005242.2:p.Tyr512=
NM_004572.4:c.1667A= NP_004563.2:p.Tyr556=