Canonical Allele Identifier: CA2026374335

Gene: PKP2

Linked Data

• dbSNP Id: rs1956590559
• gnomAD v4: 12-32841353-AAGAACCCAATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841359_32841369del , CM000674.2:g.32841359_32841369del	GRCh38
NC_000012.11:g.32994293_32994303del , CM000674.1:g.32994293_32994303del	GRCh37
NC_000012.10:g.32885560_32885570del	NCBI36
NG_009000.1:g.60483_60493del , LRG_398:g.60483_60493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1379-159_1379-149del	ENSP00000515065.2:n.1379-159_1379-149del
ENST00000700563.2:c.1379-159_1379-149del	ENSP00000515066.2:n.1379-159_1379-149del
ENST00000700559.1:c.594-159_594-149del
ENST00000700560.1:n.594-159_594-149del
ENST00000700561.1:n.720-159_720-149del
ENST00000700563.1:c.1333-159_1333-149del
ENST00000700564.1:n.1383-159_1383-149del
ENST00000700565.1:n.1232-159_1232-149del
ENST00000070846.11:c.1511-159_1511-149del	ENSP00000070846.6:n.1511-159_1511-149del
ENST00000340811.9:c.1379-159_1379-149del MANE Select	ENSP00000342800.5:n.1379-159_1379-149del
ENST00000070846.10:c.1511-159_1511-149del	ENSP00000070846.6:n.1511-159_1511-149del
ENST00000340811.8:c.1379-159_1379-149del	ENSP00000342800.4:n.1379-159_1379-149del
ENST00000613243.1:c.1511-159_1511-149del	ENSP00000478295.1:n.1511-159_1511-149del
NM_001005242.2:c.1379-159_1379-149del	NP_001005242.2:n.1379-159_1379-149del
NM_004572.3:c.1511-159_1511-149del , LRG_398t1:c.1511-159_1511-149del	NP_004563.2:n.1511-159_1511-149del
NM_001005242.3:c.1379-159_1379-149del MANE Select	NP_001005242.2:n.1379-159_1379-149del
NM_004572.4:c.1511-159_1511-149del	NP_004563.2:n.1511-159_1511-149del