Canonical Allele Identifier: CA2026373766

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841169T= , CM000674.2:g.32841169T=	GRCh38
NC_000012.11:g.32994103T= , CM000674.1:g.32994103T=	GRCh37
NC_000012.10:g.32885370T=	NCBI36
NG_009000.1:g.60678A= , LRG_398:g.60678A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1415A=	ENSP00000515065.2:p.Lys472=
ENST00000700563.2:c.1415A=	ENSP00000515066.2:p.Lys472=
ENST00000700559.1:c.630A=
ENST00000700560.1:n.630A=
ENST00000700561.1:n.756A=
ENST00000700563.1:c.1369A=
ENST00000700564.1:n.1419A=
ENST00000700565.1:n.1268A=
ENST00000070846.11:c.1547A=	ENSP00000070846.6:p.Lys516=
ENST00000340811.9:c.1415A= MANE Select	ENSP00000342800.5:p.Lys472=
ENST00000070846.10:c.1547A=	ENSP00000070846.6:p.Lys516=
ENST00000340811.8:c.1415A=	ENSP00000342800.4:p.Lys472=
ENST00000613243.1:c.1547A=	ENSP00000478295.1:p.Lys516=
NM_001005242.2:c.1415A=	NP_001005242.2:p.Lys472=
NM_004572.3:c.1547A= , LRG_398t1:c.1547A=	NP_004563.2:p.Lys516=
NM_001005242.3:c.1415A= MANE Select	NP_001005242.2:p.Lys472=
NM_004572.4:c.1547A=	NP_004563.2:p.Lys516=