Canonical Allele Identifier: CA2499221623

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1076311
• ClinVar RCV Id: RCV001390178
• dbSNP Id: rs2137919527

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868972del , CM000674.2:g.32868972del	GRCh38
NC_000012.11:g.33021906del , CM000674.1:g.33021906del	GRCh37
NC_000012.10:g.32913173del	NCBI36
NG_009000.1:g.32877del , LRG_398:g.32877del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1127del	ENSP00000515065.2:p.Phe376SerfsTer29
ENST00000700563.2:c.1127del	ENSP00000515066.2:p.Phe376SerfsTer29
ENST00000700559.1:c.342del
ENST00000700560.1:n.342del
ENST00000700561.1:n.468del
ENST00000700563.1:c.1081del
ENST00000700564.1:n.1131del
ENST00000700565.1:n.980del
ENST00000070846.11:c.1127del	ENSP00000070846.6:p.Phe376SerfsTer29
ENST00000340811.9:c.1127del MANE Select	ENSP00000342800.5:p.Phe376SerfsTer29
ENST00000070846.10:c.1127del	ENSP00000070846.6:p.Phe376SerfsTer29
ENST00000340811.8:c.1127del	ENSP00000342800.4:p.Phe376SerfsTer29
ENST00000613243.1:c.1127del	ENSP00000478295.1:p.Phe376SerfsTer29
NM_001005242.2:c.1127del	NP_001005242.2:p.Phe376SerfsTer29
NM_004572.3:c.1127del , LRG_398t1:c.1127del	NP_004563.2:p.Phe376SerfsTer29
NM_001005242.3:c.1127del MANE Select	NP_001005242.2:p.Phe376SerfsTer29
NM_004572.4:c.1127del	NP_004563.2:p.Phe376SerfsTer29