Canonical Allele Identifier: CA011748

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821368G>A , CM000674.2:g.32821368G>A	GRCh38
NC_000012.11:g.32974302G>A , CM000674.1:g.32974302G>A	GRCh37
NC_000012.10:g.32865569G>A	NCBI36
NG_009000.1:g.80479C>T , LRG_398:g.80479C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.504C>T
ENST00000700559.2:c.2001C>T	ENSP00000515065.2:p.Ala667=
ENST00000700563.2:c.2001C>T	ENSP00000515066.2:p.Ala667=
ENST00000546498.2:n.688C>T
ENST00000549461.2:n.540C>T
ENST00000700555.1:c.432C>T	ENSP00000515062.1:p.Ala144=
ENST00000700556.1:c.472C>T
ENST00000700558.1:n.215C>T
ENST00000700559.1:c.1216C>T
ENST00000700560.1:n.1216C>T
ENST00000700561.1:n.1342C>T
ENST00000700562.1:n.539C>T
ENST00000700563.1:c.1955C>T
ENST00000700564.1:n.2005C>T
ENST00000070846.11:c.2133C>T	ENSP00000070846.6:p.Ala711=
ENST00000340811.9:c.2001C>T MANE Select	ENSP00000342800.5:p.Ala667=
ENST00000070846.10:c.2133C>T	ENSP00000070846.6:p.Ala711=
ENST00000340811.8:c.2001C>T	ENSP00000342800.4:p.Ala667=
ENST00000549461.1:n.447C>T
ENST00000552612.5:n.422C>T
ENST00000613243.1:c.2133C>T	ENSP00000478295.1:p.Ala711=
NM_001005242.2:c.2001C>T	NP_001005242.2:p.Ala667=
NM_004572.3:c.2133C>T , LRG_398t1:c.2133C>T	NP_004563.2:p.Ala711=
NM_001005242.3:c.2001C>T MANE Select	NP_001005242.2:p.Ala667=
NM_004572.4:c.2133C>T	NP_004563.2:p.Ala711=