Canonical Allele Identifier: CA028543

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32896586T>C , CM000674.2:g.32896586T>C	GRCh38
NC_000012.11:g.33049520T>C , CM000674.1:g.33049520T>C	GRCh37
NC_000012.10:g.32940787T>C	NCBI36
NG_009000.1:g.5261A>G , LRG_398:g.5261A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.146A>G MANE Select	NP_001005242.2:p.Gln49Arg
ENST00000340811.9:c.146A>G MANE Select	ENSP00000342800.5:p.Gln49Arg
NM_001005242.2:c.146A>G	NP_001005242.2:p.Gln49Arg
NM_004572.3:c.146A>G , LRG_398t1:c.146A>G	NP_004563.2:p.Gln49Arg
NM_004572.4:c.146A>G	NP_004563.2:p.Gln49Arg
ENST00000070846.10:c.146A>G	ENSP00000070846.6:p.Gln49Arg
ENST00000070846.11:c.146A>G	ENSP00000070846.6:p.Gln49Arg
ENST00000340811.8:c.146A>G	ENSP00000342800.4:p.Gln49Arg
ENST00000546741.2:c.16A>G
ENST00000546741.3:c.146A>G	ENSP00000481383.2:p.Gln49Arg
ENST00000613243.1:c.146A>G	ENSP00000478295.1:p.Gln49Arg
ENST00000700559.2:c.146A>G	ENSP00000515065.2:p.Gln49Arg
ENST00000700563.1:c.100A>G
ENST00000700563.2:c.146A>G	ENSP00000515066.2:p.Gln49Arg
ENST00000700564.1:n.150A>G