Canonical Allele Identifier: CA384363028

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2505574
• ClinVar RCV Id: RCV003234873
• MyVariant Identifiers: chr12:g.32975468C>A (hg19) ; chr12:g.32822534C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822534C>A , CM000674.2:g.32822534C>A	GRCh38
NC_000012.11:g.32975468C>A , CM000674.1:g.32975468C>A	GRCh37
NC_000012.10:g.32866735C>A	NCBI36
NG_009000.1:g.79313G>T , LRG_398:g.79313G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.284G>T
ENST00000700559.2:c.1772G>T	ENSP00000515065.2:p.Arg591Leu
ENST00000700563.2:c.1772G>T	ENSP00000515066.2:p.Arg591Leu
ENST00000546498.2:n.459G>T
ENST00000700555.1:c.212G>T	ENSP00000515062.1:p.Arg71Leu
ENST00000700556.1:c.243G>T
ENST00000700559.1:c.987G>T
ENST00000700560.1:n.987G>T
ENST00000700561.1:n.1113G>T
ENST00000700563.1:c.1726G>T
ENST00000700564.1:n.1776G>T
ENST00000070846.11:c.1904G>T	ENSP00000070846.6:p.Arg635Leu
ENST00000340811.9:c.1772G>T MANE Select	ENSP00000342800.5:p.Arg591Leu
ENST00000070846.10:c.1904G>T	ENSP00000070846.6:p.Arg635Leu
ENST00000340811.8:c.1772G>T	ENSP00000342800.4:p.Arg591Leu
ENST00000546498.1:n.459G>T
ENST00000552612.5:n.193G>T
ENST00000613243.1:c.1904G>T	ENSP00000478295.1:p.Arg635Leu
NM_001005242.2:c.1772G>T	NP_001005242.2:p.Arg591Leu
NM_004572.3:c.1904G>T , LRG_398t1:c.1904G>T	NP_004563.2:p.Arg635Leu
NM_001005242.3:c.1772G>T MANE Select	NP_001005242.2:p.Arg591Leu
NM_004572.4:c.1904G>T	NP_004563.2:p.Arg635Leu