Canonical Allele Identifier: CA039792

Gene: PKP2

Linked Data

• ClinVar Variation Id: 922567
• ClinVar RCV Id: RCV001182686 ; RCV002559808
• dbSNP Id: rs762949110
• ExAC: 12:33030837 G / T
• MyVariant Identifiers: chr12:g.33030837G>T (hg19) ; chr12:g.32877903G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32877903G>T , CM000674.2:g.32877903G>T	GRCh38
NC_000012.11:g.33030837G>T , CM000674.1:g.33030837G>T	GRCh37
NC_000012.10:g.32922104G>T	NCBI36
NG_009000.1:g.23944C>A , LRG_398:g.23944C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.977C>A	ENSP00000515065.2:p.Ala326Glu
ENST00000700563.2:c.977C>A	ENSP00000515066.2:p.Ala326Glu
ENST00000700559.1:c.192C>A
ENST00000700560.1:n.192C>A
ENST00000700561.1:n.318C>A
ENST00000700563.1:c.931C>A
ENST00000700564.1:n.981C>A
ENST00000700565.1:n.830C>A
ENST00000070846.11:c.977C>A	ENSP00000070846.6:p.Ala326Glu
ENST00000340811.9:c.977C>A MANE Select	ENSP00000342800.5:p.Ala326Glu
ENST00000070846.10:c.977C>A	ENSP00000070846.6:p.Ala326Glu
ENST00000340811.8:c.977C>A	ENSP00000342800.4:p.Ala326Glu
ENST00000613243.1:c.977C>A	ENSP00000478295.1:p.Ala326Glu
NM_001005242.2:c.977C>A	NP_001005242.2:p.Ala326Glu
NM_004572.3:c.977C>A , LRG_398t1:c.977C>A	NP_004563.2:p.Ala326Glu
NM_001005242.3:c.977C>A MANE Select	NP_001005242.2:p.Ala326Glu
NM_004572.4:c.977C>A	NP_004563.2:p.Ala326Glu