Canonical Allele Identifier: CA2026352223
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32878902C= , CM000674.2:g.32878902C= GRCh38
NC_000012.11:g.33031836C= , CM000674.1:g.33031836C= GRCh37
NC_000012.10:g.32923103C= NCBI36
NG_009000.1:g.22945G= , LRG_398:g.22945G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.336+18G= ENSP00000515065.2:n.336+18G=
ENST00000700563.2:c.336+18G= ENSP00000515066.2:n.336+18G=
ENST00000700563.1:c.290+18G=
ENST00000700564.1:n.340+18G=
ENST00000700565.1:n.189+18G=
ENST00000070846.11:c.336+18G= ENSP00000070846.6:n.336+18G=
ENST00000340811.9:c.336+18G= MANE Select ENSP00000342800.5:n.336+18G=
ENST00000070846.10:c.336+18G= ENSP00000070846.6:n.336+18G=
ENST00000340811.8:c.336+18G= ENSP00000342800.4:n.336+18G=
ENST00000613243.1:c.336+18G= ENSP00000478295.1:n.336+18G=
NM_001005242.2:c.336+18G= NP_001005242.2:n.336+18G=
NM_004572.3:c.336+18G= , LRG_398t1:c.336+18G= NP_004563.2:n.336+18G=
NM_001005242.3:c.336+18G= MANE Select NP_001005242.2:n.336+18G=
NM_004572.4:c.336+18G= NP_004563.2:n.336+18G=