Canonical Allele Identifier: CA235222573

Gene: PKP2

Linked Data

• dbSNP Id: rs917892851
• MyVariant Identifiers: chr12:g.32955267_32955270del (hg19) ; chr12:g.32802333_32802336del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802336_32802339del , CM000674.2:g.32802336_32802339del	GRCh38
NC_000012.11:g.32955270_32955273del , CM000674.1:g.32955270_32955273del	GRCh37
NC_000012.10:g.32846537_32846540del	NCBI36
NG_009000.1:g.99511_99514del , LRG_398:g.99511_99514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.670+67_670+70del
ENST00000700557.2:n.259+67_259+70del
ENST00000700559.2:c.2167+67_2167+70del	ENSP00000515065.2:n.2167+67_2167+70del
ENST00000546498.2:n.854+67_854+70del
ENST00000549461.2:n.659+114_659+117del
ENST00000700555.1:c.598+67_598+70del	ENSP00000515062.1:n.598+67_598+70del
ENST00000700556.1:c.638+67_638+70del
ENST00000700557.1:c.178+67_178+70del	ENSP00000515064.1:n.178+67_178+70del
ENST00000700558.1:n.381+67_381+70del
ENST00000700559.1:c.1382+67_1382+70del
ENST00000700560.1:n.1382+67_1382+70del
ENST00000700561.1:n.1508+67_1508+70del
ENST00000070846.11:c.2299+67_2299+70del	ENSP00000070846.6:n.2299+67_2299+70del
ENST00000340811.9:c.2167+67_2167+70del MANE Select	ENSP00000342800.5:n.2167+67_2167+70del
ENST00000070846.10:c.2299+67_2299+70del	ENSP00000070846.6:n.2299+67_2299+70del
ENST00000340811.8:c.2167+67_2167+70del	ENSP00000342800.4:n.2167+67_2167+70del
ENST00000613243.1:c.2299+67_2299+70del	ENSP00000478295.1:n.2299+67_2299+70del
NM_001005242.2:c.2167+67_2167+70del	NP_001005242.2:n.2167+67_2167+70del
NM_004572.3:c.2299+67_2299+70del , LRG_398t1:c.2299+67_2299+70del	NP_004563.2:n.2299+67_2299+70del
NM_001005242.3:c.2167+67_2167+70del MANE Select	NP_001005242.2:n.2167+67_2167+70del
NM_004572.4:c.2299+67_2299+70del	NP_004563.2:n.2299+67_2299+70del