Canonical Allele Identifier: CA384363699

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1364642
• ClinVar RCV Id: RCV001942461
• dbSNP Id: rs2137778289
• MyVariant Identifiers: chr12:g.32975565C>T (hg19) ; chr12:g.32822631C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822631C>T , CM000674.2:g.32822631C>T	GRCh38
NC_000012.11:g.32975565C>T , CM000674.1:g.32975565C>T	GRCh37
NC_000012.10:g.32866832C>T	NCBI36
NG_009000.1:g.79216G>A , LRG_398:g.79216G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.187G>A
ENST00000700559.2:c.1675G>A	ENSP00000515065.2:p.Ala559Thr
ENST00000700563.2:c.1675G>A	ENSP00000515066.2:p.Ala559Thr
ENST00000546498.2:n.362G>A
ENST00000700555.1:c.115G>A	ENSP00000515062.1:p.Ala39Thr
ENST00000700556.1:c.146G>A
ENST00000700559.1:c.890G>A
ENST00000700560.1:n.890G>A
ENST00000700561.1:n.1016G>A
ENST00000700563.1:c.1629G>A
ENST00000700564.1:n.1679G>A
ENST00000070846.11:c.1807G>A	ENSP00000070846.6:p.Ala603Thr
ENST00000340811.9:c.1675G>A MANE Select	ENSP00000342800.5:p.Ala559Thr
ENST00000070846.10:c.1807G>A	ENSP00000070846.6:p.Ala603Thr
ENST00000340811.8:c.1675G>A	ENSP00000342800.4:p.Ala559Thr
ENST00000546498.1:n.362G>A
ENST00000552612.5:n.96G>A
ENST00000613243.1:c.1807G>A	ENSP00000478295.1:p.Ala603Thr
NM_001005242.2:c.1675G>A	NP_001005242.2:p.Ala559Thr
NM_004572.3:c.1807G>A , LRG_398t1:c.1807G>A	NP_004563.2:p.Ala603Thr
NM_001005242.3:c.1675G>A MANE Select	NP_001005242.2:p.Ala559Thr
NM_004572.4:c.1807G>A	NP_004563.2:p.Ala603Thr