Canonical Allele Identifier: CA2026342602
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32868897G= , CM000674.2:g.32868897G= GRCh38
NC_000012.11:g.33021831G= , CM000674.1:g.33021831G= GRCh37
NC_000012.10:g.32913098G= NCBI36
NG_009000.1:g.32950C= , LRG_398:g.32950C=

Transcript Alleles

HGVS Amino-acid change
ENST00000700559.2:c.1170+30C= ENSP00000515065.2:n.1170+30C=
ENST00000700563.2:c.1170+30C= ENSP00000515066.2:n.1170+30C=
ENST00000700559.1:c.385+30C=
ENST00000700560.1:n.385+30C=
ENST00000700561.1:n.511+30C=
ENST00000700563.1:c.1124+30C=
ENST00000700564.1:n.1174+30C=
ENST00000700565.1:n.1023+30C=
ENST00000070846.11:c.1170+30C= ENSP00000070846.6:n.1170+30C=
ENST00000340811.9:c.1170+30C= MANE Select ENSP00000342800.5:n.1170+30C=
ENST00000070846.10:c.1170+30C= ENSP00000070846.6:n.1170+30C=
ENST00000340811.8:c.1170+30C= ENSP00000342800.4:n.1170+30C=
ENST00000613243.1:c.1170+30C= ENSP00000478295.1:n.1170+30C=
NM_001005242.2:c.1170+30C= NP_001005242.2:n.1170+30C=
NM_004572.3:c.1170+30C= , LRG_398t1:c.1170+30C= NP_004563.2:n.1170+30C=
NM_001005242.3:c.1170+30C= MANE Select NP_001005242.2:n.1170+30C=
NM_004572.4:c.1170+30C= NP_004563.2:n.1170+30C=