Canonical Allele Identifier: CA027724

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32896596G>T , CM000674.2:g.32896596G>T	GRCh38
NC_000012.11:g.33049530G>T , CM000674.1:g.33049530G>T	GRCh37
NC_000012.10:g.32940797G>T	NCBI36
NG_009000.1:g.5251C>A , LRG_398:g.5251C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.136C>A MANE Select	NP_001005242.2:p.Arg46Ser
ENST00000340811.9:c.136C>A MANE Select	ENSP00000342800.5:p.Arg46Ser
NM_001005242.2:c.136C>A	NP_001005242.2:p.Arg46Ser
NM_004572.3:c.136C>A , LRG_398t1:c.136C>A	NP_004563.2:p.Arg46Ser
NM_004572.4:c.136C>A	NP_004563.2:p.Arg46Ser
ENST00000070846.10:c.136C>A	ENSP00000070846.6:p.Arg46Ser
ENST00000070846.11:c.136C>A	ENSP00000070846.6:p.Arg46Ser
ENST00000340811.8:c.136C>A	ENSP00000342800.4:p.Arg46Ser
ENST00000546741.2:c.6C>A
ENST00000546741.3:c.136C>A	ENSP00000481383.2:p.Arg46Ser
ENST00000613243.1:c.136C>A	ENSP00000478295.1:p.Arg46Ser
ENST00000700559.2:c.136C>A	ENSP00000515065.2:p.Arg46Ser
ENST00000700563.1:c.90C>A
ENST00000700563.2:c.136C>A	ENSP00000515066.2:p.Arg46Ser
ENST00000700564.1:n.140C>A