Canonical Allele Identifier: CA2026352387
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32878951G= , CM000674.2:g.32878951G= GRCh38
NC_000012.11:g.33031885G= , CM000674.1:g.33031885G= GRCh37
NC_000012.10:g.32923152G= NCBI36
NG_009000.1:g.22896C= , LRG_398:g.22896C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.305C= ENSP00000515065.2:p.Ser102=
ENST00000700563.2:c.305C= ENSP00000515066.2:p.Ser102=
ENST00000700563.1:c.259C=
ENST00000700564.1:n.309C=
ENST00000700565.1:n.158C=
ENST00000070846.11:c.305C= ENSP00000070846.6:p.Ser102=
ENST00000340811.9:c.305C= MANE Select ENSP00000342800.5:p.Ser102=
ENST00000070846.10:c.305C= ENSP00000070846.6:p.Ser102=
ENST00000340811.8:c.305C= ENSP00000342800.4:p.Ser102=
ENST00000613243.1:c.305C= ENSP00000478295.1:p.Ser102=
NM_001005242.2:c.305C= NP_001005242.2:p.Ser102=
NM_004572.3:c.305C= , LRG_398t1:c.305C= NP_004563.2:p.Ser102=
NM_001005242.3:c.305C= MANE Select NP_001005242.2:p.Ser102=
NM_004572.4:c.305C= NP_004563.2:p.Ser102=