Canonical Allele Identifier: CA919057457

Gene: PKP2

Linked Data

• dbSNP Id: rs1261147833

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821415dup , CM000674.2:g.32821415dup	GRCh38
NC_000012.11:g.32974349dup , CM000674.1:g.32974349dup	GRCh37
NC_000012.10:g.32865616dup	NCBI36
NG_009000.1:g.80433dup , LRG_398:g.80433dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.458dup
ENST00000700559.2:c.1955dup	ENSP00000515065.2:p.Asn652LysfsTer?
ENST00000700563.2:c.1955dup	ENSP00000515066.2:p.Asn652LysfsTer?
ENST00000546498.2:n.642dup
ENST00000549461.2:n.494dup
ENST00000700555.1:c.386dup	ENSP00000515062.1:p.Asn129LysfsTer?
ENST00000700556.1:c.426dup
ENST00000700558.1:n.169dup
ENST00000700559.1:c.1170dup
ENST00000700560.1:n.1170dup
ENST00000700561.1:n.1296dup
ENST00000700562.1:n.493dup
ENST00000700563.1:c.1909dup
ENST00000700564.1:n.1959dup
ENST00000070846.11:c.2087dup	ENSP00000070846.6:p.Asn696LysfsTer?
ENST00000340811.9:c.1955dup MANE Select	ENSP00000342800.5:p.Asn652LysfsTer?
ENST00000070846.10:c.2087dup	ENSP00000070846.6:p.Asn696LysfsTer?
ENST00000340811.8:c.1955dup	ENSP00000342800.4:p.Asn652LysfsTer?
ENST00000549461.1:n.401dup
ENST00000552612.5:n.376dup
ENST00000613243.1:c.2087dup	ENSP00000478295.1:p.Asn696LysfsTer?
NM_001005242.2:c.1955dup	NP_001005242.2:p.Asn652LysfsTer?
NM_004572.3:c.2087dup , LRG_398t1:c.2087dup	NP_004563.2:p.Asn696LysfsTer?
NM_001005242.3:c.1955dup MANE Select	NP_001005242.2:p.Asn652LysfsTer?
NM_004572.4:c.2087dup	NP_004563.2:p.Asn696LysfsTer?