Canonical Allele Identifier: CA2618226830

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2720069
• ClinVar RCV Id: RCV003508440
• gnomAD v4: 12-32879035-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32879035G>T , CM000674.2:g.32879035G>T	GRCh38
NC_000012.11:g.33031969G>T , CM000674.1:g.33031969G>T	GRCh37
NC_000012.10:g.32923236G>T	NCBI36
NG_009000.1:g.22812C>A , LRG_398:g.22812C>A

Transcript Alleles

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