Canonical Allele Identifier: CA384368110

Gene: PKP2

Linked Data

• ClinVar Variation Id: 921217
• ClinVar RCV Id: RCV001180485
• dbSNP Id: rs1956588629
• gnomAD v4: 12-32841189-C-A
• MyVariant Identifiers: chr12:g.32994123C>A (hg19) ; chr12:g.32841189C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841189C>A , CM000674.2:g.32841189C>A	GRCh38
NC_000012.11:g.32994123C>A , CM000674.1:g.32994123C>A	GRCh37
NC_000012.10:g.32885390C>A	NCBI36
NG_009000.1:g.60658G>T , LRG_398:g.60658G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1395G>T	ENSP00000515065.2:p.Leu465Phe
ENST00000700563.2:c.1395G>T	ENSP00000515066.2:p.Leu465Phe
ENST00000700559.1:c.610G>T
ENST00000700560.1:n.610G>T
ENST00000700561.1:n.736G>T
ENST00000700563.1:c.1349G>T
ENST00000700564.1:n.1399G>T
ENST00000700565.1:n.1248G>T
ENST00000070846.11:c.1527G>T	ENSP00000070846.6:p.Leu509Phe
ENST00000340811.9:c.1395G>T MANE Select	ENSP00000342800.5:p.Leu465Phe
ENST00000070846.10:c.1527G>T	ENSP00000070846.6:p.Leu509Phe
ENST00000340811.8:c.1395G>T	ENSP00000342800.4:p.Leu465Phe
ENST00000613243.1:c.1527G>T	ENSP00000478295.1:p.Leu509Phe
NM_001005242.2:c.1395G>T	NP_001005242.2:p.Leu465Phe
NM_004572.3:c.1527G>T , LRG_398t1:c.1527G>T	NP_004563.2:p.Leu509Phe
NM_001005242.3:c.1395G>T MANE Select	NP_001005242.2:p.Leu465Phe
NM_004572.4:c.1527G>T	NP_004563.2:p.Leu509Phe