Canonical Allele Identifier: CA011678

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821418G>A , CM000674.2:g.32821418G>A	GRCh38
NC_000012.11:g.32974352G>A , CM000674.1:g.32974352G>A	GRCh37
NC_000012.10:g.32865619G>A	NCBI36
NG_009000.1:g.80429C>T , LRG_398:g.80429C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.454C>T
ENST00000700559.2:c.1951C>T	ENSP00000515065.2:p.Arg651Cys
ENST00000700563.2:c.1951C>T	ENSP00000515066.2:p.Arg651Cys
ENST00000546498.2:n.638C>T
ENST00000549461.2:n.490C>T
ENST00000700555.1:c.382C>T	ENSP00000515062.1:p.Arg128Cys
ENST00000700556.1:c.422C>T
ENST00000700558.1:n.165C>T
ENST00000700559.1:c.1166C>T
ENST00000700560.1:n.1166C>T
ENST00000700561.1:n.1292C>T
ENST00000700562.1:n.489C>T
ENST00000700563.1:c.1905C>T
ENST00000700564.1:n.1955C>T
ENST00000070846.11:c.2083C>T	ENSP00000070846.6:p.Arg695Cys
ENST00000340811.9:c.1951C>T MANE Select	ENSP00000342800.5:p.Arg651Cys
ENST00000070846.10:c.2083C>T	ENSP00000070846.6:p.Arg695Cys
ENST00000340811.8:c.1951C>T	ENSP00000342800.4:p.Arg651Cys
ENST00000549461.1:n.397C>T
ENST00000552612.5:n.372C>T
ENST00000613243.1:c.2083C>T	ENSP00000478295.1:p.Arg695Cys
NM_001005242.2:c.1951C>T	NP_001005242.2:p.Arg651Cys
NM_004572.3:c.2083C>T , LRG_398t1:c.2083C>T	NP_004563.2:p.Arg695Cys
NM_001005242.3:c.1951C>T MANE Select	NP_001005242.2:p.Arg651Cys
NM_004572.4:c.2083C>T	NP_004563.2:p.Arg695Cys