Canonical Allele Identifier: CA2839520495

Gene: PKP2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.284dup	ENSP00000515065.2:p.Asn95LysfsTer2
ENST00000700563.2:c.284dup	ENSP00000515066.2:p.Asn95LysfsTer2
ENST00000700563.1:c.238dup
ENST00000700564.1:n.288dup
ENST00000700565.1:n.137dup
ENST00000070846.11:c.284dup	ENSP00000070846.6:p.Asn95LysfsTer2
ENST00000340811.9:c.284dup MANE Select	ENSP00000342800.5:p.Asn95LysfsTer2
ENST00000070846.10:c.284dup	ENSP00000070846.6:p.Asn95LysfsTer2
ENST00000340811.8:c.284dup	ENSP00000342800.4:p.Asn95LysfsTer2
ENST00000613243.1:c.284dup	ENSP00000478295.1:p.Asn95LysfsTer2
NM_001005242.2:c.284dup	NP_001005242.2:p.Asn95LysfsTer2
NM_004572.3:c.284dup , LRG_398t1:c.284dup	NP_004563.2:p.Asn95LysfsTer2
NM_001005242.3:c.284dup MANE Select	NP_001005242.2:p.Asn95LysfsTer2
NM_004572.4:c.284dup	NP_004563.2:p.Asn95LysfsTer2