Canonical Allele Identifier: CA384363487

Gene: PKP2

Linked Data

• ClinVar Variation Id: 3071995
• ClinVar RCV Id: RCV004012025
• MyVariant Identifiers: chr12:g.32975537T>C (hg19) ; chr12:g.32822603T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822603T>C , CM000674.2:g.32822603T>C	GRCh38
NC_000012.11:g.32975537T>C , CM000674.1:g.32975537T>C	GRCh37
NC_000012.10:g.32866804T>C	NCBI36
NG_009000.1:g.79244A>G , LRG_398:g.79244A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.215A>G
ENST00000700559.2:c.1703A>G	ENSP00000515065.2:p.His568Arg
ENST00000700563.2:c.1703A>G	ENSP00000515066.2:p.His568Arg
ENST00000546498.2:n.390A>G
ENST00000700555.1:c.143A>G	ENSP00000515062.1:p.His48Arg
ENST00000700556.1:c.174A>G
ENST00000700559.1:c.918A>G
ENST00000700560.1:n.918A>G
ENST00000700561.1:n.1044A>G
ENST00000700563.1:c.1657A>G
ENST00000700564.1:n.1707A>G
ENST00000070846.11:c.1835A>G	ENSP00000070846.6:p.His612Arg
ENST00000340811.9:c.1703A>G MANE Select	ENSP00000342800.5:p.His568Arg
ENST00000070846.10:c.1835A>G	ENSP00000070846.6:p.His612Arg
ENST00000340811.8:c.1703A>G	ENSP00000342800.4:p.His568Arg
ENST00000546498.1:n.390A>G
ENST00000552612.5:n.124A>G
ENST00000613243.1:c.1835A>G	ENSP00000478295.1:p.His612Arg
NM_001005242.2:c.1703A>G	NP_001005242.2:p.His568Arg
NM_004572.3:c.1835A>G , LRG_398t1:c.1835A>G	NP_004563.2:p.His612Arg
NM_001005242.3:c.1703A>G MANE Select	NP_001005242.2:p.His568Arg
NM_004572.4:c.1835A>G	NP_004563.2:p.His612Arg