Canonical Allele Identifier: CA2026374484
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32802546G= , CM000674.2:g.32802546G= GRCh38
NC_000012.11:g.32955480G= , CM000674.1:g.32955480G= GRCh37
NC_000012.10:g.32846747G= NCBI36
NG_009000.1:g.99301C= , LRG_398:g.99301C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.527C=
ENST00000700557.2:n.116C=
ENST00000700559.2:c.2024C= ENSP00000515065.2:p.Ser675=
ENST00000546498.2:n.711C=
ENST00000549461.2:n.563C=
ENST00000700555.1:c.455C= ENSP00000515062.1:p.Ser152=
ENST00000700556.1:c.495C=
ENST00000700557.1:c.35C= ENSP00000515064.1:p.Ser12=
ENST00000700558.1:n.238C=
ENST00000700559.1:c.1239C=
ENST00000700560.1:n.1239C=
ENST00000700561.1:n.1365C=
ENST00000070846.11:c.2156C= ENSP00000070846.6:p.Ser719=
ENST00000340811.9:c.2024C= MANE Select ENSP00000342800.5:p.Ser675=
ENST00000070846.10:c.2156C= ENSP00000070846.6:p.Ser719=
ENST00000340811.8:c.2024C= ENSP00000342800.4:p.Ser675=
ENST00000549461.1:n.470C=
ENST00000613243.1:c.2156C= ENSP00000478295.1:p.Ser719=
NM_001005242.2:c.2024C= NP_001005242.2:p.Ser675=
NM_004572.3:c.2156C= , LRG_398t1:c.2156C= NP_004563.2:p.Ser719=
NM_001005242.3:c.2024C= MANE Select NP_001005242.2:p.Ser675=
NM_004572.4:c.2156C= NP_004563.2:p.Ser719=