Canonical Allele Identifier: CA2977602040

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32896454A>G , CM000674.2:g.32896454A>G	GRCh38
NC_000012.11:g.33049388A>G , CM000674.1:g.33049388A>G	GRCh37
NC_000012.10:g.32940655A>G	NCBI36
NG_009000.1:g.5393T>C , LRG_398:g.5393T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.223+55T>C MANE Select	NP_001005242.2:n.223+55T>C
ENST00000340811.9:c.223+55T>C MANE Select	ENSP00000342800.5:n.223+55T>C
NM_001005242.2:c.223+55T>C	NP_001005242.2:n.223+55T>C
NM_004572.3:c.223+55T>C , LRG_398t1:c.223+55T>C	NP_004563.2:n.223+55T>C
NM_004572.4:c.223+55T>C	NP_004563.2:n.223+55T>C
ENST00000070846.10:c.223+55T>C	ENSP00000070846.6:n.223+55T>C
ENST00000070846.11:c.223+55T>C	ENSP00000070846.6:n.223+55T>C
ENST00000340811.8:c.223+55T>C	ENSP00000342800.4:n.223+55T>C
ENST00000546741.2:c.93+55T>C
ENST00000546741.3:c.223+55T>C	ENSP00000481383.2:n.223+55T>C
ENST00000613243.1:c.223+55T>C	ENSP00000478295.1:n.223+55T>C
ENST00000700559.2:c.223+55T>C	ENSP00000515065.2:n.223+55T>C
ENST00000700563.1:c.177+55T>C
ENST00000700563.2:c.223+55T>C	ENSP00000515066.2:n.223+55T>C
ENST00000700564.1:n.227+55T>C
ENST00000700565.1:n.76+55T>C