Canonical Allele Identifier: CA1139662558

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796175dup , CM000674.2:g.32796175dup	GRCh38
NC_000012.11:g.32949109dup , CM000674.1:g.32949109dup	GRCh37
NC_000012.10:g.32840376dup	NCBI36
NG_009000.1:g.105672dup , LRG_398:g.105672dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.794dup
ENST00000700557.2:n.383dup
ENST00000700559.2:c.2168-3444dup	ENSP00000515065.2:n.2168-3444dup
ENST00000546498.2:n.978dup
ENST00000549461.2:n.783dup
ENST00000700555.1:c.722dup	ENSP00000515062.1:p.Asn242GlufsTer18
ENST00000700556.1:c.762dup
ENST00000700557.1:c.302dup	ENSP00000515064.1:p.Asn102GlufsTer18
ENST00000700558.1:n.505dup
ENST00000700559.1:c.1383-3444dup
ENST00000700560.1:n.1506dup
ENST00000700561.1:n.1632dup
ENST00000070846.11:c.2423dup	ENSP00000070846.6:p.Asn809GlufsTer18
ENST00000340811.9:c.2291dup MANE Select	ENSP00000342800.5:p.Asn765GlufsTer18
ENST00000070846.10:c.2423dup	ENSP00000070846.6:p.Asn809GlufsTer18
ENST00000340811.8:c.2291dup	ENSP00000342800.4:p.Asn765GlufsTer18
ENST00000613243.1:c.2423dup	ENSP00000478295.1:p.Asn809GlufsTer?
NM_001005242.2:c.2291dup	NP_001005242.2:p.Asn765GlufsTer18
NM_004572.3:c.2423dup , LRG_398t1:c.2423dup	NP_004563.2:p.Asn809GlufsTer18
NM_001005242.3:c.2291dup MANE Select	NP_001005242.2:p.Asn765GlufsTer18
NM_004572.4:c.2423dup	NP_004563.2:p.Asn809GlufsTer18