Canonical Allele Identifier: CA2026374477
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32802544C= , CM000674.2:g.32802544C= GRCh38
NC_000012.11:g.32955478C= , CM000674.1:g.32955478C= GRCh37
NC_000012.10:g.32846745C= NCBI36
NG_009000.1:g.99303G= , LRG_398:g.99303G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.529G=
ENST00000700557.2:n.118G=
ENST00000700559.2:c.2026G= ENSP00000515065.2:p.Val676=
ENST00000546498.2:n.713G=
ENST00000549461.2:n.565G=
ENST00000700555.1:c.457G= ENSP00000515062.1:p.Val153=
ENST00000700556.1:c.497G=
ENST00000700557.1:c.37G= ENSP00000515064.1:p.Val13=
ENST00000700558.1:n.240G=
ENST00000700559.1:c.1241G=
ENST00000700560.1:n.1241G=
ENST00000700561.1:n.1367G=
ENST00000070846.11:c.2158G= ENSP00000070846.6:p.Val720=
ENST00000340811.9:c.2026G= MANE Select ENSP00000342800.5:p.Val676=
ENST00000070846.10:c.2158G= ENSP00000070846.6:p.Val720=
ENST00000340811.8:c.2026G= ENSP00000342800.4:p.Val676=
ENST00000549461.1:n.472G=
ENST00000613243.1:c.2158G= ENSP00000478295.1:p.Val720=
NM_001005242.2:c.2026G= NP_001005242.2:p.Val676=
NM_004572.3:c.2158G= , LRG_398t1:c.2158G= NP_004563.2:p.Val720=
NM_001005242.3:c.2026G= MANE Select NP_001005242.2:p.Val676=
NM_004572.4:c.2158G= NP_004563.2:p.Val720=