Canonical Allele Identifier: CA16616725

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1806376
• ClinVar RCV Id: RCV002470660

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796120del , CM000674.2:g.32796120del	GRCh38
NC_000012.11:g.32949054del , CM000674.1:g.32949054del	GRCh37
NC_000012.10:g.32840321del	NCBI36
NG_009000.1:g.105727del , LRG_398:g.105727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.849del
ENST00000700557.2:n.438del
ENST00000700559.2:c.2168-3389del	ENSP00000515065.2:n.2168-3389del
ENST00000546498.2:n.1033del
ENST00000549461.2:n.838del
ENST00000700555.1:c.777del	ENSP00000515062.1:p.Ser259ArgfsTer?
ENST00000700556.1:c.817del
ENST00000700557.1:c.357del	ENSP00000515064.1:p.Ser119ArgfsTer?
ENST00000700558.1:n.560del
ENST00000700559.1:c.1383-3389del
ENST00000700560.1:n.1561del
ENST00000700561.1:n.1687del
ENST00000070846.11:c.2478del	ENSP00000070846.6:p.Ser826ArgfsTer?
ENST00000340811.9:c.2346del MANE Select	ENSP00000342800.5:p.Ser782ArgfsTer?
ENST00000070846.10:c.2478del	ENSP00000070846.6:p.Ser826ArgfsTer?
ENST00000340811.8:c.2346del	ENSP00000342800.4:p.Ser782ArgfsTer?
ENST00000613243.1:c.2476del	ENSP00000478295.1:n.2476del
NM_001005242.2:c.2346del	NP_001005242.2:p.Ser782ArgfsTer?
NM_004572.3:c.2478del , LRG_398t1:c.2478del	NP_004563.2:p.Ser826ArgfsTer?
NM_001005242.3:c.2346del MANE Select	NP_001005242.2:p.Ser782ArgfsTer?
NM_004572.4:c.2478del	NP_004563.2:p.Ser826ArgfsTer?