Canonical Allele Identifier: CA2026396415
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32821513G= , CM000674.2:g.32821513G= GRCh38
NC_000012.11:g.32974447G= , CM000674.1:g.32974447G= GRCh37
NC_000012.10:g.32865714G= NCBI36
NG_009000.1:g.80334C= , LRG_398:g.80334C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.359C=
ENST00000700559.2:c.1856C= ENSP00000515065.2:p.Pro619=
ENST00000700563.2:c.1856C= ENSP00000515066.2:p.Pro619=
ENST00000546498.2:n.543C=
ENST00000549461.2:n.395C=
ENST00000700555.1:c.287C= ENSP00000515062.1:p.Pro96=
ENST00000700556.1:c.327C=
ENST00000700558.1:n.70C=
ENST00000700559.1:c.1071C=
ENST00000700560.1:n.1071C=
ENST00000700561.1:n.1197C=
ENST00000700562.1:n.394C=
ENST00000700563.1:c.1810C=
ENST00000700564.1:n.1860C=
ENST00000070846.11:c.1988C= ENSP00000070846.6:p.Pro663=
ENST00000340811.9:c.1856C= MANE Select ENSP00000342800.5:p.Pro619=
ENST00000070846.10:c.1988C= ENSP00000070846.6:p.Pro663=
ENST00000340811.8:c.1856C= ENSP00000342800.4:p.Pro619=
ENST00000546498.1:n.543C=
ENST00000549461.1:n.302C=
ENST00000552612.5:n.277C=
ENST00000613243.1:c.1988C= ENSP00000478295.1:p.Pro663=
NM_001005242.2:c.1856C= NP_001005242.2:p.Pro619=
NM_004572.3:c.1988C= , LRG_398t1:c.1988C= NP_004563.2:p.Pro663=
NM_001005242.3:c.1856C= MANE Select NP_001005242.2:p.Pro619=
NM_004572.4:c.1988C= NP_004563.2:p.Pro663=