Canonical Allele Identifier: CA2739291630

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878975del , CM000674.2:g.32878975del	GRCh38
NC_000012.11:g.33031909del , CM000674.1:g.33031909del	GRCh37
NC_000012.10:g.32923176del	NCBI36
NG_009000.1:g.22875del , LRG_398:g.22875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.284del	ENSP00000515065.2:p.Asn95MetfsTer17
ENST00000700563.2:c.284del	ENSP00000515066.2:p.Asn95MetfsTer17
ENST00000700563.1:c.238del
ENST00000700564.1:n.288del
ENST00000700565.1:n.137del
ENST00000070846.11:c.284del	ENSP00000070846.6:p.Asn95MetfsTer17
ENST00000340811.9:c.284del MANE Select	ENSP00000342800.5:p.Asn95MetfsTer17
ENST00000070846.10:c.284del	ENSP00000070846.6:p.Asn95MetfsTer17
ENST00000340811.8:c.284del	ENSP00000342800.4:p.Asn95MetfsTer17
ENST00000613243.1:c.284del	ENSP00000478295.1:p.Asn95MetfsTer17
NM_001005242.2:c.284del	NP_001005242.2:p.Asn95MetfsTer17
NM_004572.3:c.284del , LRG_398t1:c.284del	NP_004563.2:p.Asn95MetfsTer17
NM_001005242.3:c.284del MANE Select	NP_001005242.2:p.Asn95MetfsTer17
NM_004572.4:c.284del	NP_004563.2:p.Asn95MetfsTer17