Canonical Allele Identifier: CA2026373882
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32802352A= , CM000674.2:g.32802352A= GRCh38
NC_000012.11:g.32955286A= , CM000674.1:g.32955286A= GRCh37
NC_000012.10:g.32846553A= NCBI36
NG_009000.1:g.99495T= , LRG_398:g.99495T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.670+51T=
ENST00000700557.2:n.259+51T=
ENST00000700559.2:c.2167+51T= ENSP00000515065.2:n.2167+51T=
ENST00000546498.2:n.854+51T=
ENST00000549461.2:n.659+98T=
ENST00000700555.1:c.598+51T= ENSP00000515062.1:n.598+51T=
ENST00000700556.1:c.638+51T=
ENST00000700557.1:c.178+51T= ENSP00000515064.1:n.178+51T=
ENST00000700558.1:n.381+51T=
ENST00000700559.1:c.1382+51T=
ENST00000700560.1:n.1382+51T=
ENST00000700561.1:n.1508+51T=
ENST00000070846.11:c.2299+51T= ENSP00000070846.6:n.2299+51T=
ENST00000340811.9:c.2167+51T= MANE Select ENSP00000342800.5:n.2167+51T=
ENST00000070846.10:c.2299+51T= ENSP00000070846.6:n.2299+51T=
ENST00000340811.8:c.2167+51T= ENSP00000342800.4:n.2167+51T=
ENST00000613243.1:c.2299+51T= ENSP00000478295.1:n.2299+51T=
NM_001005242.2:c.2167+51T= NP_001005242.2:n.2167+51T=
NM_004572.3:c.2299+51T= , LRG_398t1:c.2299+51T= NP_004563.2:n.2299+51T=
NM_001005242.3:c.2167+51T= MANE Select NP_001005242.2:n.2167+51T=
NM_004572.4:c.2299+51T= NP_004563.2:n.2299+51T=