Canonical Allele Identifier: CA658797868

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822536del , CM000674.2:g.32822536del	GRCh38
NC_000012.11:g.32975470del , CM000674.1:g.32975470del	GRCh37
NC_000012.10:g.32866737del	NCBI36
NG_009000.1:g.79312del , LRG_398:g.79312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.283del
ENST00000700559.2:c.1771del	ENSP00000515065.2:p.Arg591GlyfsTer21
ENST00000700563.2:c.1771del	ENSP00000515066.2:p.Arg591GlyfsTer21
ENST00000546498.2:n.458del
ENST00000700555.1:c.211del	ENSP00000515062.1:p.Arg71GlyfsTer?
ENST00000700556.1:c.242del
ENST00000700559.1:c.986del
ENST00000700560.1:n.986del
ENST00000700561.1:n.1112del
ENST00000700563.1:c.1725del
ENST00000700564.1:n.1775del
ENST00000070846.11:c.1903del	ENSP00000070846.6:p.Arg635GlyfsTer21
ENST00000340811.9:c.1771del MANE Select	ENSP00000342800.5:p.Arg591GlyfsTer21
ENST00000070846.10:c.1903del	ENSP00000070846.6:p.Arg635GlyfsTer21
ENST00000340811.8:c.1771del	ENSP00000342800.4:p.Arg591GlyfsTer21
ENST00000546498.1:n.458del
ENST00000552612.5:n.192del
ENST00000613243.1:c.1903del	ENSP00000478295.1:p.Arg635GlyfsTer21
NM_001005242.2:c.1771del	NP_001005242.2:p.Arg591GlyfsTer21
NM_004572.3:c.1903del , LRG_398t1:c.1903del	NP_004563.2:p.Arg635GlyfsTer21
NM_001005242.3:c.1771del MANE Select	NP_001005242.2:p.Arg591GlyfsTer21
NM_004572.4:c.1903del	NP_004563.2:p.Arg635GlyfsTer21