Canonical Allele Identifier: CA2618224634

Gene: PKP2

Linked Data

• gnomAD v4: 12-32821325-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821329_32821330del , CM000674.2:g.32821329_32821330del	GRCh38
NC_000012.11:g.32974263_32974264del , CM000674.1:g.32974263_32974264del	GRCh37
NC_000012.10:g.32865530_32865531del	NCBI36
NG_009000.1:g.80520_80521del , LRG_398:g.80520_80521del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.516+29_516+30del
ENST00000700559.2:c.2013+29_2013+30del	ENSP00000515065.2:n.2013+29_2013+30del
ENST00000700563.2:c.2013+29_2013+30del	ENSP00000515066.2:n.2013+29_2013+30del
ENST00000546498.2:n.700+29_700+30del
ENST00000549461.2:n.552+29_552+30del
ENST00000700555.1:c.444+29_444+30del	ENSP00000515062.1:n.444+29_444+30del
ENST00000700556.1:c.484+29_484+30del
ENST00000700558.1:n.227+29_227+30del
ENST00000700559.1:c.1228+29_1228+30del
ENST00000700560.1:n.1228+29_1228+30del
ENST00000700561.1:n.1354+29_1354+30del
ENST00000700562.1:n.551+29_551+30del
ENST00000700563.1:c.1967+29_1967+30del
ENST00000700564.1:n.2046_2047del
ENST00000070846.11:c.2145+29_2145+30del	ENSP00000070846.6:n.2145+29_2145+30del
ENST00000340811.9:c.2013+29_2013+30del MANE Select	ENSP00000342800.5:n.2013+29_2013+30del
ENST00000070846.10:c.2145+29_2145+30del	ENSP00000070846.6:n.2145+29_2145+30del
ENST00000340811.8:c.2013+29_2013+30del	ENSP00000342800.4:n.2013+29_2013+30del
ENST00000549461.1:n.459+29_459+30del
ENST00000552612.5:n.463_464del
ENST00000613243.1:c.2145+29_2145+30del	ENSP00000478295.1:n.2145+29_2145+30del
NM_001005242.2:c.2013+29_2013+30del	NP_001005242.2:n.2013+29_2013+30del
NM_004572.3:c.2145+29_2145+30del , LRG_398t1:c.2145+29_2145+30del	NP_004563.2:n.2145+29_2145+30del
NM_001005242.3:c.2013+29_2013+30del MANE Select	NP_001005242.2:n.2013+29_2013+30del
NM_004572.4:c.2145+29_2145+30del	NP_004563.2:n.2145+29_2145+30del