Canonical Allele Identifier: CA039804

Gene: PKP2

Linked Data

• ClinVar Variation Id: 227852
• ClinVar RCV Id: RCV001525505
• dbSNP Id: rs775137004
• ExAC: 12:33030836 T / C
• gnomAD v2: 12-33030836-T-C
• gnomAD v4: 12-32877902-T-C
• MyVariant Identifiers: chr12:g.33030836T>C (hg19) ; chr12:g.32877902T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32877902T>C , CM000674.2:g.32877902T>C	GRCh38
NC_000012.11:g.33030836T>C , CM000674.1:g.33030836T>C	GRCh37
NC_000012.10:g.32922103T>C	NCBI36
NG_009000.1:g.23945A>G , LRG_398:g.23945A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.978A>G	ENSP00000515065.2:p.Ala326=
ENST00000700563.2:c.978A>G	ENSP00000515066.2:p.Ala326=
ENST00000700559.1:c.193A>G
ENST00000700560.1:n.193A>G
ENST00000700561.1:n.319A>G
ENST00000700563.1:c.932A>G
ENST00000700564.1:n.982A>G
ENST00000700565.1:n.831A>G
ENST00000070846.11:c.978A>G	ENSP00000070846.6:p.Ala326=
ENST00000340811.9:c.978A>G MANE Select	ENSP00000342800.5:p.Ala326=
ENST00000070846.10:c.978A>G	ENSP00000070846.6:p.Ala326=
ENST00000340811.8:c.978A>G	ENSP00000342800.4:p.Ala326=
ENST00000613243.1:c.978A>G	ENSP00000478295.1:p.Ala326=
NM_001005242.2:c.978A>G	NP_001005242.2:p.Ala326=
NM_004572.3:c.978A>G , LRG_398t1:c.978A>G	NP_004563.2:p.Ala326=
NM_001005242.3:c.978A>G MANE Select	NP_001005242.2:p.Ala326=
NM_004572.4:c.978A>G	NP_004563.2:p.Ala326=