Canonical Allele Identifier: CA010668

Gene: PKP2

Linked Data

• ClinVar Variation Id: 45068
• ClinVar RCV Id: RCV000038209 ; RCV000148730 ; RCV000190558 ; RCV000244829 ; RCV000458904 ; RCV000776101 ; RCV000858416 ; RCV003934921 ; RCV003318347
• dbSNP Id: rs139734328
• ExAC: 12:32949101 G / T
• gnomAD v2: 12-32949101-G-T
• gnomAD v3: 12-32796167-G-T
• gnomAD v4: 12-32796167-G-T
• MyVariant Identifiers: chr12:g.32949101G>T (hg19) ; chr12:g.32796167G>T (hg38)
• PubMed: PMID:20400443 ; PMID:20829228 ; PMID:20857253 ; PMID:23299917 ; PMID:23810883 ; PMID:23861362 ; PMID:24832006 ; PMID:25351510 ; PMID:25637381 ; PMID:26332594 ; PMID:26656175 ; PMID:26743238 ; PMID:28341588

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796167G>T , CM000674.2:g.32796167G>T	GRCh38
NC_000012.11:g.32949101G>T , CM000674.1:g.32949101G>T	GRCh37
NC_000012.10:g.32840368G>T	NCBI36
NG_009000.1:g.105680C>A , LRG_398:g.105680C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.802C>A
ENST00000700557.2:n.391C>A
ENST00000700559.2:c.2168-3436C>A	ENSP00000515065.2:n.2168-3436C>A
ENST00000546498.2:n.986C>A
ENST00000549461.2:n.791C>A
ENST00000700555.1:c.730C>A	ENSP00000515062.1:p.Arg244Ser
ENST00000700556.1:c.770C>A
ENST00000700557.1:c.310C>A	ENSP00000515064.1:p.Arg104Ser
ENST00000700558.1:n.513C>A
ENST00000700559.1:c.1383-3436C>A
ENST00000700560.1:n.1514C>A
ENST00000700561.1:n.1640C>A
ENST00000070846.11:c.2431C>A	ENSP00000070846.6:p.Arg811Ser
ENST00000340811.9:c.2299C>A MANE Select	ENSP00000342800.5:p.Arg767Ser
ENST00000070846.10:c.2431C>A	ENSP00000070846.6:p.Arg811Ser
ENST00000340811.8:c.2299C>A	ENSP00000342800.4:p.Arg767Ser
ENST00000613243.1:c.2431C>A	ENSP00000478295.1:p.Arg811Ser
NM_001005242.2:c.2299C>A	NP_001005242.2:p.Arg767Ser
NM_004572.3:c.2431C>A , LRG_398t1:c.2431C>A	NP_004563.2:p.Arg811Ser
NM_001005242.3:c.2299C>A MANE Select	NP_001005242.2:p.Arg767Ser
NM_004572.4:c.2431C>A	NP_004563.2:p.Arg811Ser