Canonical Allele Identifier: CA916081662

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796238dup , CM000674.2:g.32796238dup	GRCh38
NC_000012.11:g.32949172dup , CM000674.1:g.32949172dup	GRCh37
NC_000012.10:g.32840439dup	NCBI36
NG_009000.1:g.105610dup , LRG_398:g.105610dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.732dup
ENST00000700557.2:n.321dup
ENST00000700559.2:c.2168-3506dup	ENSP00000515065.2:n.2168-3506dup
ENST00000546498.2:n.916dup
ENST00000549461.2:n.721dup
ENST00000700555.1:c.660dup	ENSP00000515062.1:p.Leu221SerfsTer3
ENST00000700556.1:c.700dup
ENST00000700557.1:c.240dup	ENSP00000515064.1:p.Leu81SerfsTer3
ENST00000700558.1:n.443dup
ENST00000700559.1:c.1383-3506dup
ENST00000700560.1:n.1444dup
ENST00000700561.1:n.1570dup
ENST00000070846.11:c.2361dup	ENSP00000070846.6:p.Leu788SerfsTer3
ENST00000340811.9:c.2229dup MANE Select	ENSP00000342800.5:p.Leu744SerfsTer3
ENST00000070846.10:c.2361dup	ENSP00000070846.6:p.Leu788SerfsTer3
ENST00000340811.8:c.2229dup	ENSP00000342800.4:p.Leu744SerfsTer3
ENST00000613243.1:c.2361dup	ENSP00000478295.1:p.Leu788SerfsTer3
NM_001005242.2:c.2229dup	NP_001005242.2:p.Leu744SerfsTer3
NM_004572.3:c.2361dup , LRG_398t1:c.2361dup	NP_004563.2:p.Leu788SerfsTer3
NM_001005242.3:c.2229dup MANE Select	NP_001005242.2:p.Leu744SerfsTer3
NM_004572.4:c.2361dup	NP_004563.2:p.Leu788SerfsTer3