Canonical Allele Identifier: CA012280

Gene: PKP2

Linked Data

• ClinVar Variation Id: 196395
• ClinVar RCV Id: RCV000177212 ; RCV000183716 ; RCV001177380
• dbSNP Id: rs760576804
• gnomAD v4: 12-32878512-C-T
• MyVariant Identifiers: chr12:g.33031446C>T (hg19) ; chr12:g.32878512C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878512C>T , CM000674.2:g.32878512C>T	GRCh38
NC_000012.11:g.33031446C>T , CM000674.1:g.33031446C>T	GRCh37
NC_000012.10:g.32922713C>T	NCBI36
NG_009000.1:g.23335G>A , LRG_398:g.23335G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.368G>A	ENSP00000515065.2:p.Trp123Ter
ENST00000700563.2:c.368G>A	ENSP00000515066.2:p.Trp123Ter
ENST00000700563.1:c.322G>A
ENST00000700564.1:n.372G>A
ENST00000700565.1:n.221G>A
ENST00000070846.11:c.368G>A	ENSP00000070846.6:p.Trp123Ter
ENST00000340811.9:c.368G>A MANE Select	ENSP00000342800.5:p.Trp123Ter
ENST00000070846.10:c.368G>A	ENSP00000070846.6:p.Trp123Ter
ENST00000340811.8:c.368G>A	ENSP00000342800.4:p.Trp123Ter
ENST00000613243.1:c.368G>A	ENSP00000478295.1:p.Trp123Ter
NM_001005242.2:c.368G>A	NP_001005242.2:p.Trp123Ter
NM_004572.3:c.368G>A , LRG_398t1:c.368G>A	NP_004563.2:p.Trp123Ter
NM_001005242.3:c.368G>A MANE Select	NP_001005242.2:p.Trp123Ter
NM_004572.4:c.368G>A	NP_004563.2:p.Trp123Ter