Canonical Allele Identifier: CA2573148517

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1515615
• ClinVar RCV Id: RCV002021221
• dbSNP Id: rs2137919094

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868923_32868924del , CM000674.2:g.32868923_32868924del	GRCh38
NC_000012.11:g.33021857_33021858del , CM000674.1:g.33021857_33021858del	GRCh37
NC_000012.10:g.32913124_32913125del	NCBI36
NG_009000.1:g.32924_32925del , LRG_398:g.32924_32925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1170+4_1170+5del	ENSP00000515065.2:n.1170+4_1170+5del
ENST00000700563.2:c.1170+4_1170+5del	ENSP00000515066.2:n.1170+4_1170+5del
ENST00000700559.1:c.385+4_385+5del
ENST00000700560.1:n.385+4_385+5del
ENST00000700561.1:n.511+4_511+5del
ENST00000700563.1:c.1124+4_1124+5del
ENST00000700564.1:n.1174+4_1174+5del
ENST00000700565.1:n.1023+4_1023+5del
ENST00000070846.11:c.1170+4_1170+5del	ENSP00000070846.6:n.1170+4_1170+5del
ENST00000340811.9:c.1170+4_1170+5del MANE Select	ENSP00000342800.5:n.1170+4_1170+5del
ENST00000070846.10:c.1170+4_1170+5del	ENSP00000070846.6:n.1170+4_1170+5del
ENST00000340811.8:c.1170+4_1170+5del	ENSP00000342800.4:n.1170+4_1170+5del
ENST00000613243.1:c.1170+4_1170+5del	ENSP00000478295.1:n.1170+4_1170+5del
NM_001005242.2:c.1170+4_1170+5del	NP_001005242.2:n.1170+4_1170+5del
NM_004572.3:c.1170+4_1170+5del , LRG_398t1:c.1170+4_1170+5del	NP_004563.2:n.1170+4_1170+5del
NM_001005242.3:c.1170+4_1170+5del MANE Select	NP_001005242.2:n.1170+4_1170+5del
NM_004572.4:c.1170+4_1170+5del	NP_004563.2:n.1170+4_1170+5del