Canonical Allele Identifier: CA2026359762
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796075G= , CM000674.2:g.32796075G= GRCh38
NC_000012.11:g.32949009G= , CM000674.1:g.32949009G= GRCh37
NC_000012.10:g.32840276G= NCBI36
NG_009000.1:g.105772C= , LRG_398:g.105772C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.860+34C=
ENST00000700557.2:n.449+34C=
ENST00000700559.2:c.2168-3344C= ENSP00000515065.2:n.2168-3344C=
ENST00000546498.2:n.1044+34C=
ENST00000549461.2:n.849+34C=
ENST00000700555.1:c.788+34C= ENSP00000515062.1:n.788+34C=
ENST00000700556.1:c.828+34C=
ENST00000700557.1:c.368+34C= ENSP00000515064.1:n.368+34C=
ENST00000700558.1:n.571+34C=
ENST00000700559.1:c.1383-3344C=
ENST00000700560.1:n.1572+34C=
ENST00000700561.1:n.1732C=
ENST00000070846.11:c.2489+34C= ENSP00000070846.6:n.2489+34C=
ENST00000340811.9:c.2357+34C= MANE Select ENSP00000342800.5:n.2357+34C=
ENST00000070846.10:c.2489+34C= ENSP00000070846.6:n.2489+34C=
ENST00000340811.8:c.2357+34C= ENSP00000342800.4:n.2357+34C=
ENST00000613243.1:c.2487+34C= ENSP00000478295.1:n.2487+34C=
NM_001005242.2:c.2357+34C= NP_001005242.2:n.2357+34C=
NM_004572.3:c.2489+34C= , LRG_398t1:c.2489+34C= NP_004563.2:n.2489+34C=
NM_001005242.3:c.2357+34C= MANE Select NP_001005242.2:n.2357+34C=
NM_004572.4:c.2489+34C= NP_004563.2:n.2489+34C=