Canonical Allele Identifier: CA915947923

Gene: PKP2

Linked Data

• ClinVar Variation Id: 751601
• ClinVar RCV Id: RCV001462239
• dbSNP Id: rs1591829238
• gnomAD v4: 12-32878911-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878912del , CM000674.2:g.32878912del	GRCh38
NC_000012.11:g.33031846del , CM000674.1:g.33031846del	GRCh37
NC_000012.10:g.32923113del	NCBI36
NG_009000.1:g.22935del , LRG_398:g.22935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.336+8del	ENSP00000515065.2:n.336+8del
ENST00000700563.2:c.336+8del	ENSP00000515066.2:n.336+8del
ENST00000700563.1:c.290+8del
ENST00000700564.1:n.340+8del
ENST00000700565.1:n.189+8del
ENST00000070846.11:c.336+8del	ENSP00000070846.6:n.336+8del
ENST00000340811.9:c.336+8del MANE Select	ENSP00000342800.5:n.336+8del
ENST00000070846.10:c.336+8del	ENSP00000070846.6:n.336+8del
ENST00000340811.8:c.336+8del	ENSP00000342800.4:n.336+8del
ENST00000613243.1:c.336+8del	ENSP00000478295.1:n.336+8del
NM_001005242.2:c.336+8del	NP_001005242.2:n.336+8del
NM_004572.3:c.336+8del , LRG_398t1:c.336+8del	NP_004563.2:n.336+8del
NM_001005242.3:c.336+8del MANE Select	NP_001005242.2:n.336+8del
NM_004572.4:c.336+8del	NP_004563.2:n.336+8del