Canonical Allele Identifier: CA2795090753

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822885_32822887del , CM000674.2:g.32822885_32822887del	GRCh38
NC_000012.11:g.32975819_32975821del , CM000674.1:g.32975819_32975821del	GRCh37
NC_000012.10:g.32867086_32867088del	NCBI36
NG_009000.1:g.78963_78965del , LRG_398:g.78963_78965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.187-253_187-251del
ENST00000700559.2:c.1675-253_1675-251del	ENSP00000515065.2:n.1675-253_1675-251del
ENST00000700563.2:c.1675-253_1675-251del	ENSP00000515066.2:n.1675-253_1675-251del
ENST00000546498.2:n.362-253_362-251del
ENST00000700555.1:c.115-253_115-251del	ENSP00000515062.1:n.115-253_115-251del
ENST00000700556.1:c.146-253_146-251del
ENST00000700559.1:c.890-253_890-251del
ENST00000700560.1:n.890-253_890-251del
ENST00000700561.1:n.1016-253_1016-251del
ENST00000700563.1:c.1629-253_1629-251del
ENST00000700564.1:n.1679-253_1679-251del
ENST00000070846.11:c.1807-253_1807-251del	ENSP00000070846.6:n.1807-253_1807-251del
ENST00000340811.9:c.1675-253_1675-251del MANE Select	ENSP00000342800.5:n.1675-253_1675-251del
ENST00000070846.10:c.1807-253_1807-251del	ENSP00000070846.6:n.1807-253_1807-251del
ENST00000340811.8:c.1675-253_1675-251del	ENSP00000342800.4:n.1675-253_1675-251del
ENST00000546498.1:n.362-253_362-251del
ENST00000552612.5:n.96-253_96-251del
ENST00000613243.1:c.1807-253_1807-251del	ENSP00000478295.1:n.1807-253_1807-251del
NM_001005242.2:c.1675-253_1675-251del	NP_001005242.2:n.1675-253_1675-251del
NM_004572.3:c.1807-253_1807-251del , LRG_398t1:c.1807-253_1807-251del	NP_004563.2:n.1807-253_1807-251del
NM_001005242.3:c.1675-253_1675-251del MANE Select	NP_001005242.2:n.1675-253_1675-251del
NM_004572.4:c.1807-253_1807-251del	NP_004563.2:n.1807-253_1807-251del