Canonical Allele Identifier: CA2695216234

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822481del , CM000674.2:g.32822481del	GRCh38
NC_000012.11:g.32975415del , CM000674.1:g.32975415del	GRCh37
NC_000012.10:g.32866682del	NCBI36
NG_009000.1:g.79366del , LRG_398:g.79366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.337del
ENST00000700559.2:c.1825del	ENSP00000515065.2:p.Arg609GlyfsTer3
ENST00000700563.2:c.1825del	ENSP00000515066.2:p.Arg609GlyfsTer3
ENST00000546498.2:n.512del
ENST00000700555.1:c.265del	ENSP00000515062.1:p.Arg89GlyfsTer28
ENST00000700556.1:c.296del
ENST00000700559.1:c.1040del
ENST00000700560.1:n.1040del
ENST00000700561.1:n.1166del
ENST00000700563.1:c.1779del
ENST00000700564.1:n.1829del
ENST00000070846.11:c.1957del	ENSP00000070846.6:p.Arg653GlyfsTer3
ENST00000340811.9:c.1825del MANE Select	ENSP00000342800.5:p.Arg609GlyfsTer3
ENST00000070846.10:c.1957del	ENSP00000070846.6:p.Arg653GlyfsTer3
ENST00000340811.8:c.1825del	ENSP00000342800.4:p.Arg609GlyfsTer3
ENST00000546498.1:n.512del
ENST00000552612.5:n.246del
ENST00000613243.1:c.1957del	ENSP00000478295.1:p.Arg653GlyfsTer3
NM_001005242.2:c.1825del	NP_001005242.2:p.Arg609GlyfsTer3
NM_004572.3:c.1957del , LRG_398t1:c.1957del	NP_004563.2:p.Arg653GlyfsTer3
NM_001005242.3:c.1825del MANE Select	NP_001005242.2:p.Arg609GlyfsTer3
NM_004572.4:c.1957del	NP_004563.2:p.Arg653GlyfsTer3