Canonical Allele Identifier: CA2739271932

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2792714
• ClinVar RCV Id: RCV003618237

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822549del , CM000674.2:g.32822549del	GRCh38
NC_000012.11:g.32975483del , CM000674.1:g.32975483del	GRCh37
NC_000012.10:g.32866750del	NCBI36
NG_009000.1:g.79298del , LRG_398:g.79298del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.269del
ENST00000700559.2:c.1757del	ENSP00000515065.2:p.Ile586ThrfsTer26
ENST00000700563.2:c.1757del	ENSP00000515066.2:p.Ile586ThrfsTer26
ENST00000546498.2:n.444del
ENST00000700555.1:c.197del	ENSP00000515062.1:p.Ile66ThrfsTer?
ENST00000700556.1:c.228del
ENST00000700559.1:c.972del
ENST00000700560.1:n.972del
ENST00000700561.1:n.1098del
ENST00000700563.1:c.1711del
ENST00000700564.1:n.1761del
ENST00000070846.11:c.1889del	ENSP00000070846.6:p.Ile630ThrfsTer26
ENST00000340811.9:c.1757del MANE Select	ENSP00000342800.5:p.Ile586ThrfsTer26
ENST00000070846.10:c.1889del	ENSP00000070846.6:p.Ile630ThrfsTer26
ENST00000340811.8:c.1757del	ENSP00000342800.4:p.Ile586ThrfsTer26
ENST00000546498.1:n.444del
ENST00000552612.5:n.178del
ENST00000613243.1:c.1889del	ENSP00000478295.1:p.Ile630ThrfsTer26
NM_001005242.2:c.1757del	NP_001005242.2:p.Ile586ThrfsTer26
NM_004572.3:c.1889del , LRG_398t1:c.1889del	NP_004563.2:p.Ile630ThrfsTer26
NM_001005242.3:c.1757del MANE Select	NP_001005242.2:p.Ile586ThrfsTer26
NM_004572.4:c.1889del	NP_004563.2:p.Ile630ThrfsTer26