Canonical Allele Identifier: CA011854

Gene: PKP2

Linked Data

• ClinVar Variation Id: 202005
• ClinVar RCV Id: RCV000183774 ; RCV000622076
• dbSNP Id: rs794729116
• gnomAD v4: 12-32802402-C-T
• MyVariant Identifiers: chr12:g.32955336C>T (hg19) ; chr12:g.32802402C>T (hg38)
• PubMed: PMID:26743238

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802402C>T , CM000674.2:g.32802402C>T	GRCh38
NC_000012.11:g.32955336C>T , CM000674.1:g.32955336C>T	GRCh37
NC_000012.10:g.32846603C>T	NCBI36
NG_009000.1:g.99445G>A , LRG_398:g.99445G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.670+1G>A
ENST00000700557.2:n.259+1G>A
ENST00000700559.2:c.2167+1G>A	ENSP00000515065.2:n.2167+1G>A
ENST00000546498.2:n.854+1G>A
ENST00000549461.2:n.659+48G>A
ENST00000700555.1:c.598+1G>A	ENSP00000515062.1:n.598+1G>A
ENST00000700556.1:c.638+1G>A
ENST00000700557.1:c.178+1G>A	ENSP00000515064.1:n.178+1G>A
ENST00000700558.1:n.381+1G>A
ENST00000700559.1:c.1382+1G>A
ENST00000700560.1:n.1382+1G>A
ENST00000700561.1:n.1508+1G>A
ENST00000070846.11:c.2299+1G>A	ENSP00000070846.6:n.2299+1G>A
ENST00000340811.9:c.2167+1G>A MANE Select	ENSP00000342800.5:n.2167+1G>A
ENST00000070846.10:c.2299+1G>A	ENSP00000070846.6:n.2299+1G>A
ENST00000340811.8:c.2167+1G>A	ENSP00000342800.4:n.2167+1G>A
ENST00000613243.1:c.2299+1G>A	ENSP00000478295.1:n.2299+1G>A
NM_001005242.2:c.2167+1G>A	NP_001005242.2:n.2167+1G>A
NM_004572.3:c.2299+1G>A , LRG_398t1:c.2299+1G>A	NP_004563.2:n.2299+1G>A
NM_001005242.3:c.2167+1G>A MANE Select	NP_001005242.2:n.2167+1G>A
NM_004572.4:c.2299+1G>A	NP_004563.2:n.2299+1G>A