Canonical Allele Identifier: CA011004

Gene: PKP2

Linked Data

• ClinVar Variation Id: 45022
• ClinVar RCV Id: RCV000038161 ; RCV000183806 ; RCV000244525 ; RCV002513499
• dbSNP Id: rs397516994
• gnomAD v2: 12-33003699-C-G
• gnomAD v4: 12-32850765-C-G
• MyVariant Identifiers: chr12:g.33003699C>G (hg19) ; chr12:g.32850765C>G (hg38)
• PubMed: PMID:18662195 ; PMID:20400443 ; PMID:23671136 ; PMID:23810883 ; PMID:23810894 ; PMID:27194543

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850765C>G , CM000674.2:g.32850765C>G	GRCh38
NC_000012.11:g.33003699C>G , CM000674.1:g.33003699C>G	GRCh37
NC_000012.10:g.32894966C>G	NCBI36
NG_009000.1:g.51082G>C , LRG_398:g.51082G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1378+1G>C	ENSP00000515065.2:n.1378+1G>C
ENST00000700563.2:c.1378+1G>C	ENSP00000515066.2:n.1378+1G>C
ENST00000700559.1:c.593+1G>C
ENST00000700560.1:n.593+1G>C
ENST00000700561.1:n.719+1G>C
ENST00000700563.1:c.1332+1G>C
ENST00000700564.1:n.1382+1G>C
ENST00000700565.1:n.1231+1G>C
ENST00000070846.11:c.1378+1G>C	ENSP00000070846.6:n.1378+1G>C
ENST00000340811.9:c.1378+1G>C MANE Select	ENSP00000342800.5:n.1378+1G>C
ENST00000070846.10:c.1378+1G>C	ENSP00000070846.6:n.1378+1G>C
ENST00000340811.8:c.1378+1G>C	ENSP00000342800.4:n.1378+1G>C
ENST00000613243.1:c.1378+1G>C	ENSP00000478295.1:n.1378+1G>C
NM_001005242.2:c.1378+1G>C	NP_001005242.2:n.1378+1G>C
NM_004572.3:c.1378+1G>C , LRG_398t1:c.1378+1G>C	NP_004563.2:n.1378+1G>C
NM_001005242.3:c.1378+1G>C MANE Select	NP_001005242.2:n.1378+1G>C
NM_004572.4:c.1378+1G>C	NP_004563.2:n.1378+1G>C