Canonical Allele Identifier: CA384363518

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1163350
• ClinVar RCV Id: RCV001508329
• dbSNP Id: rs1956392593
• MyVariant Identifiers: chr12:g.32975541G>A (hg19) ; chr12:g.32822607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822607G>A , CM000674.2:g.32822607G>A	GRCh38
NC_000012.11:g.32975541G>A , CM000674.1:g.32975541G>A	GRCh37
NC_000012.10:g.32866808G>A	NCBI36
NG_009000.1:g.79240C>T , LRG_398:g.79240C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.211C>T
ENST00000700559.2:c.1699C>T	ENSP00000515065.2:p.Leu567Phe
ENST00000700563.2:c.1699C>T	ENSP00000515066.2:p.Leu567Phe
ENST00000546498.2:n.386C>T
ENST00000700555.1:c.139C>T	ENSP00000515062.1:p.Leu47Phe
ENST00000700556.1:c.170C>T
ENST00000700559.1:c.914C>T
ENST00000700560.1:n.914C>T
ENST00000700561.1:n.1040C>T
ENST00000700563.1:c.1653C>T
ENST00000700564.1:n.1703C>T
ENST00000070846.11:c.1831C>T	ENSP00000070846.6:p.Leu611Phe
ENST00000340811.9:c.1699C>T MANE Select	ENSP00000342800.5:p.Leu567Phe
ENST00000070846.10:c.1831C>T	ENSP00000070846.6:p.Leu611Phe
ENST00000340811.8:c.1699C>T	ENSP00000342800.4:p.Leu567Phe
ENST00000546498.1:n.386C>T
ENST00000552612.5:n.120C>T
ENST00000613243.1:c.1831C>T	ENSP00000478295.1:p.Leu611Phe
NM_001005242.2:c.1699C>T	NP_001005242.2:p.Leu567Phe
NM_004572.3:c.1831C>T , LRG_398t1:c.1831C>T	NP_004563.2:p.Leu611Phe
NM_001005242.3:c.1699C>T MANE Select	NP_001005242.2:p.Leu567Phe
NM_004572.4:c.1831C>T	NP_004563.2:p.Leu611Phe