Canonical Allele Identifier: CA011079

Gene: PKP2

Linked Data

• ClinVar Variation Id: 45028
• ClinVar RCV Id: RCV000157418 ; RCV000183796 ; RCV000228638 ; RCV000769400 ; RCV001293469 ; RCV002390156
• dbSNP Id: rs397516997
• gnomAD v3: 12-32896580-ACTGT-A
• gnomAD v4: 12-32896580-ACTGT-A
• MyVariant Identifiers: chr12:g.33049515_33049518del (hg19) ; chr12:g.32896581_32896584del (hg38)
• PubMed: PMID:15489853 ; PMID:16415378 ; PMID:16549640 ; PMID:16567567 ; PMID:17010805 ; PMID:19302745 ; PMID:20031616 ; PMID:20129281 ; PMID:20152563 ; PMID:20400443 ; PMID:21606390 ; PMID:21606396 ; PMID:23347029 ; PMID:23810883 ; PMID:23812740 ; PMID:24200905 ; PMID:24585727

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32896584_32896587del , CM000674.2:g.32896584_32896587del	GRCh38
NC_000012.11:g.33049518_33049521del , CM000674.1:g.33049518_33049521del	GRCh37
NC_000012.10:g.32940785_32940788del	NCBI36
NG_009000.1:g.5263_5266del , LRG_398:g.5263_5266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546741.3:c.148_151del	ENSP00000481383.2:p.Thr50SerfsTer28
ENST00000700559.2:c.148_151del	ENSP00000515065.2:p.Thr50SerfsTer?
ENST00000700563.2:c.148_151del	ENSP00000515066.2:p.Thr50SerfsTer?
ENST00000700563.1:c.102_105del
ENST00000700564.1:n.152_155del
ENST00000070846.11:c.148_151del	ENSP00000070846.6:p.Thr50SerfsTer?
ENST00000340811.9:c.148_151del MANE Select	ENSP00000342800.5:p.Thr50SerfsTer?
ENST00000070846.10:c.148_151del	ENSP00000070846.6:p.Thr50SerfsTer?
ENST00000340811.8:c.148_151del	ENSP00000342800.4:p.Thr50SerfsTer?
ENST00000546741.2:c.18_21del
ENST00000613243.1:c.148_151del	ENSP00000478295.1:p.Thr50SerfsTer?
NM_001005242.2:c.148_151del	NP_001005242.2:p.Thr50SerfsTer?
NM_004572.3:c.148_151del , LRG_398t1:c.148_151del	NP_004563.2:p.Thr50SerfsTer?
NM_001005242.3:c.148_151del MANE Select	NP_001005242.2:p.Thr50SerfsTer?
NM_004572.4:c.148_151del	NP_004563.2:p.Thr50SerfsTer?