Canonical Allele Identifier: CA2026359751
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796069G= , CM000674.2:g.32796069G= GRCh38
NC_000012.11:g.32949003G= , CM000674.1:g.32949003G= GRCh37
NC_000012.10:g.32840270G= NCBI36
NG_009000.1:g.105778C= , LRG_398:g.105778C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.860+40C=
ENST00000700557.2:n.449+40C=
ENST00000700559.2:c.2168-3338C= ENSP00000515065.2:n.2168-3338C=
ENST00000546498.2:n.1044+40C=
ENST00000549461.2:n.849+40C=
ENST00000700555.1:c.788+40C= ENSP00000515062.1:n.788+40C=
ENST00000700556.1:c.828+40C=
ENST00000700557.1:c.368+40C= ENSP00000515064.1:n.368+40C=
ENST00000700558.1:n.571+40C=
ENST00000700559.1:c.1383-3338C=
ENST00000700560.1:n.1572+40C=
ENST00000700561.1:n.1738C=
ENST00000070846.11:c.2489+40C= ENSP00000070846.6:n.2489+40C=
ENST00000340811.9:c.2357+40C= MANE Select ENSP00000342800.5:n.2357+40C=
ENST00000070846.10:c.2489+40C= ENSP00000070846.6:n.2489+40C=
ENST00000340811.8:c.2357+40C= ENSP00000342800.4:n.2357+40C=
ENST00000613243.1:c.2487+40C= ENSP00000478295.1:n.2487+40C=
NM_001005242.2:c.2357+40C= NP_001005242.2:n.2357+40C=
NM_004572.3:c.2489+40C= , LRG_398t1:c.2489+40C= NP_004563.2:n.2489+40C=
NM_001005242.3:c.2357+40C= MANE Select NP_001005242.2:n.2357+40C=
NM_004572.4:c.2489+40C= NP_004563.2:n.2489+40C=