Canonical Allele Identifier: CA2026352680

Gene: PKP2

Linked Data

• dbSNP Id: rs1956962901
• gnomAD v4: 12-32879070-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32879070A>C , CM000674.2:g.32879070A>C	GRCh38
NC_000012.11:g.33032004A>C , CM000674.1:g.33032004A>C	GRCh37
NC_000012.10:g.32923271A>C	NCBI36
NG_009000.1:g.22777T>G , LRG_398:g.22777T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.224-38T>G	ENSP00000515065.2:n.224-38T>G
ENST00000700563.2:c.224-38T>G	ENSP00000515066.2:n.224-38T>G
ENST00000700563.1:c.178-38T>G
ENST00000700564.1:n.228-38T>G
ENST00000700565.1:n.77-38T>G
ENST00000070846.11:c.224-38T>G	ENSP00000070846.6:n.224-38T>G
ENST00000340811.9:c.224-38T>G MANE Select	ENSP00000342800.5:n.224-38T>G
ENST00000070846.10:c.224-38T>G	ENSP00000070846.6:n.224-38T>G
ENST00000340811.8:c.224-38T>G	ENSP00000342800.4:n.224-38T>G
ENST00000613243.1:c.224-38T>G	ENSP00000478295.1:n.224-38T>G
NM_001005242.2:c.224-38T>G	NP_001005242.2:n.224-38T>G
NM_004572.3:c.224-38T>G , LRG_398t1:c.224-38T>G	NP_004563.2:n.224-38T>G
NM_001005242.3:c.224-38T>G MANE Select	NP_001005242.2:n.224-38T>G
NM_004572.4:c.224-38T>G	NP_004563.2:n.224-38T>G