Canonical Allele Identifier: CA2618227621

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32896456G>A , CM000674.2:g.32896456G>A	GRCh38
NC_000012.11:g.33049390G>A , CM000674.1:g.33049390G>A	GRCh37
NC_000012.10:g.32940657G>A	NCBI36
NG_009000.1:g.5391C>T , LRG_398:g.5391C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.223+53C>T MANE Select	NP_001005242.2:n.223+53C>T
ENST00000340811.9:c.223+53C>T MANE Select	ENSP00000342800.5:n.223+53C>T
NM_001005242.2:c.223+53C>T	NP_001005242.2:n.223+53C>T
NM_004572.3:c.223+53C>T , LRG_398t1:c.223+53C>T	NP_004563.2:n.223+53C>T
NM_004572.4:c.223+53C>T	NP_004563.2:n.223+53C>T
ENST00000070846.10:c.223+53C>T	ENSP00000070846.6:n.223+53C>T
ENST00000070846.11:c.223+53C>T	ENSP00000070846.6:n.223+53C>T
ENST00000340811.8:c.223+53C>T	ENSP00000342800.4:n.223+53C>T
ENST00000546741.2:c.93+53C>T
ENST00000546741.3:c.223+53C>T	ENSP00000481383.2:n.223+53C>T
ENST00000613243.1:c.223+53C>T	ENSP00000478295.1:n.223+53C>T
ENST00000700559.2:c.223+53C>T	ENSP00000515065.2:n.223+53C>T
ENST00000700563.1:c.177+53C>T
ENST00000700563.2:c.223+53C>T	ENSP00000515066.2:n.223+53C>T
ENST00000700564.1:n.227+53C>T
ENST00000700565.1:n.76+53C>T