Canonical Allele Identifier: CA011846

Gene: PKP2

Linked Data

• ClinVar Variation Id: 202023
• ClinVar RCV Id: RCV000183797
• dbSNP Id: rs794729130
• MyVariant Identifiers: chr12:g.32955362del (hg19) ; chr12:g.32802428del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802429del , CM000674.2:g.32802429del	GRCh38
NC_000012.11:g.32955363del , CM000674.1:g.32955363del	GRCh37
NC_000012.10:g.32846630del	NCBI36
NG_009000.1:g.99419del , LRG_398:g.99419del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.645del
ENST00000700557.2:n.234del
ENST00000700559.2:c.2142del	ENSP00000515065.2:p.Asn715IlefsTer16
ENST00000546498.2:n.829del
ENST00000549461.2:n.659+22del
ENST00000700555.1:c.573del	ENSP00000515062.1:p.Asn192IlefsTer?
ENST00000700556.1:c.613del
ENST00000700557.1:c.153del	ENSP00000515064.1:p.Asn52IlefsTer?
ENST00000700558.1:n.356del
ENST00000700559.1:c.1357del
ENST00000700560.1:n.1357del
ENST00000700561.1:n.1483del
ENST00000070846.11:c.2274del	ENSP00000070846.6:p.Asn759IlefsTer?
ENST00000340811.9:c.2142del MANE Select	ENSP00000342800.5:p.Asn715IlefsTer?
ENST00000070846.10:c.2274del	ENSP00000070846.6:p.Asn759IlefsTer?
ENST00000340811.8:c.2142del	ENSP00000342800.4:p.Asn715IlefsTer?
ENST00000613243.1:c.2274del	ENSP00000478295.1:p.Asn759IlefsTer?
NM_001005242.2:c.2142del	NP_001005242.2:p.Asn715IlefsTer?
NM_004572.3:c.2274del , LRG_398t1:c.2274del	NP_004563.2:p.Asn759IlefsTer?
NM_001005242.3:c.2142del MANE Select	NP_001005242.2:p.Asn715IlefsTer?
NM_004572.4:c.2274del	NP_004563.2:p.Asn759IlefsTer?