Canonical Allele Identifier: CA010803

Gene: PKP2

Linked Data

• ClinVar Variation Id: 202016
• ClinVar RCV Id: RCV000183786 ; RCV000477267 ; RCV003398913
• dbSNP Id: rs794729124
• gnomAD v4: 12-32868964-TGTATGAAA-T
• MyVariant Identifiers: chr12:g.33021899_33021906del (hg19) ; chr12:g.32868965_32868972del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868968_32868975del , CM000674.2:g.32868968_32868975del	GRCh38
NC_000012.11:g.33021902_33021909del , CM000674.1:g.33021902_33021909del	GRCh37
NC_000012.10:g.32913169_32913176del	NCBI36
NG_009000.1:g.32875_32882del , LRG_398:g.32875_32882del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1125_1132del	ENSP00000515065.2:p.Phe376AlafsTer8
ENST00000700563.2:c.1125_1132del	ENSP00000515066.2:p.Phe376AlafsTer8
ENST00000700559.1:c.340_347del
ENST00000700560.1:n.340_347del
ENST00000700561.1:n.466_473del
ENST00000700563.1:c.1079_1086del
ENST00000700564.1:n.1129_1136del
ENST00000700565.1:n.978_985del
ENST00000070846.11:c.1125_1132del	ENSP00000070846.6:p.Phe376AlafsTer8
ENST00000340811.9:c.1125_1132del MANE Select	ENSP00000342800.5:p.Phe376AlafsTer8
ENST00000070846.10:c.1125_1132del	ENSP00000070846.6:p.Phe376AlafsTer8
ENST00000340811.8:c.1125_1132del	ENSP00000342800.4:p.Phe376AlafsTer8
ENST00000613243.1:c.1125_1132del	ENSP00000478295.1:p.Phe376AlafsTer8
NM_001005242.2:c.1125_1132del	NP_001005242.2:p.Phe376AlafsTer8
NM_004572.3:c.1125_1132del , LRG_398t1:c.1125_1132del	NP_004563.2:p.Phe376AlafsTer8
NM_001005242.3:c.1125_1132del MANE Select	NP_001005242.2:p.Phe376AlafsTer8
NM_004572.4:c.1125_1132del	NP_004563.2:p.Phe376AlafsTer8