Canonical Allele Identifier: CA011637

Gene: PKP2

Linked Data

• ClinVar Variation Id: 202022
• ClinVar RCV Id: RCV000183795 ; RCV001183812 ; RCV001852371 ; RCV001842942 ; RCV002415788 ; RCV004017464
• dbSNP Id: rs764817683
• ExAC: 12:32974421 TG / T
• gnomAD v2: 12-32974421-TG-T
• gnomAD v3: 12-32821487-TG-T
• gnomAD v4: 12-32821487-TG-T
• MyVariant Identifiers: chr12:g.32974422del (hg19) ; chr12:g.32821488del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821491del , CM000674.2:g.32821491del	GRCh38
NC_000012.11:g.32974425del , CM000674.1:g.32974425del	GRCh37
NC_000012.10:g.32865692del	NCBI36
NG_009000.1:g.80359del , LRG_398:g.80359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.384del
ENST00000700559.2:c.1881del	ENSP00000515065.2:p.Lys628ArgfsTer12
ENST00000700563.2:c.1881del	ENSP00000515066.2:p.Lys628ArgfsTer12
ENST00000546498.2:n.568del
ENST00000549461.2:n.420del
ENST00000700555.1:c.312del	ENSP00000515062.1:p.Lys105ArgfsTer12
ENST00000700556.1:c.352del
ENST00000700558.1:n.95del
ENST00000700559.1:c.1096del
ENST00000700560.1:n.1096del
ENST00000700561.1:n.1222del
ENST00000700562.1:n.419del
ENST00000700563.1:c.1835del
ENST00000700564.1:n.1885del
ENST00000070846.11:c.2013del	ENSP00000070846.6:p.Lys672ArgfsTer12
ENST00000340811.9:c.1881del MANE Select	ENSP00000342800.5:p.Lys628ArgfsTer12
ENST00000070846.10:c.2013del	ENSP00000070846.6:p.Lys672ArgfsTer12
ENST00000340811.8:c.1881del	ENSP00000342800.4:p.Lys628ArgfsTer12
ENST00000546498.1:n.568del
ENST00000549461.1:n.327del
ENST00000552612.5:n.302del
ENST00000613243.1:c.2013del	ENSP00000478295.1:p.Lys672ArgfsTer12
NM_001005242.2:c.1881del	NP_001005242.2:p.Lys628ArgfsTer12
NM_004572.3:c.2013del , LRG_398t1:c.2013del	NP_004563.2:p.Lys672ArgfsTer12
NM_001005242.3:c.1881del MANE Select	NP_001005242.2:p.Lys628ArgfsTer12
NM_004572.4:c.2013del	NP_004563.2:p.Lys672ArgfsTer12