Canonical Allele Identifier: CA2580615157

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2574443
• ClinVar RCV Id: RCV003319025

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822546delinsGGA , CM000674.2:g.32822546delinsGGA	GRCh38
NC_000012.11:g.32975480delinsGGA , CM000674.1:g.32975480delinsGGA	GRCh37
NC_000012.10:g.32866747delinsGGA	NCBI36
NG_009000.1:g.79301delinsTCC , LRG_398:g.79301delinsTCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.272delinsTCC
ENST00000700559.2:c.1760delinsTCC	ENSP00000515065.2:p.Tyr587PhefsTer26
ENST00000700563.2:c.1760delinsTCC	ENSP00000515066.2:p.Tyr587PhefsTer26
ENST00000546498.2:n.447delinsTCC
ENST00000700555.1:c.200delinsTCC	ENSP00000515062.1:p.Tyr67PhefsTer?
ENST00000700556.1:c.231delinsTCC
ENST00000700559.1:c.975delinsTCC
ENST00000700560.1:n.975delinsTCC
ENST00000700561.1:n.1101delinsTCC
ENST00000700563.1:c.1714delinsTCC
ENST00000700564.1:n.1764delinsTCC
ENST00000070846.11:c.1892delinsTCC	ENSP00000070846.6:p.Tyr631PhefsTer26
ENST00000340811.9:c.1760delinsTCC MANE Select	ENSP00000342800.5:p.Tyr587PhefsTer26
ENST00000070846.10:c.1892delinsTCC	ENSP00000070846.6:p.Tyr631PhefsTer26
ENST00000340811.8:c.1760delinsTCC	ENSP00000342800.4:p.Tyr587PhefsTer26
ENST00000546498.1:n.447delinsTCC
ENST00000552612.5:n.181delinsTCC
ENST00000613243.1:c.1892delinsTCC	ENSP00000478295.1:p.Tyr631PhefsTer26
NM_001005242.2:c.1760delinsTCC	NP_001005242.2:p.Tyr587PhefsTer26
NM_004572.3:c.1892delinsTCC , LRG_398t1:c.1892delinsTCC	NP_004563.2:p.Tyr631PhefsTer26
NM_001005242.3:c.1760delinsTCC MANE Select	NP_001005242.2:p.Tyr587PhefsTer26
NM_004572.4:c.1892delinsTCC	NP_004563.2:p.Tyr631PhefsTer26