Canonical Allele Identifier: CA2026374064

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802430G= , CM000674.2:g.32802430G=	GRCh38
NC_000012.11:g.32955364G= , CM000674.1:g.32955364G=	GRCh37
NC_000012.10:g.32846631G=	NCBI36
NG_009000.1:g.99417C= , LRG_398:g.99417C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.643C=
ENST00000700557.2:n.232C=
ENST00000700559.2:c.2140C=	ENSP00000515065.2:p.Arg714=
ENST00000546498.2:n.827C=
ENST00000549461.2:n.659+20C=
ENST00000700555.1:c.571C=	ENSP00000515062.1:p.Arg191=
ENST00000700556.1:c.611C=
ENST00000700557.1:c.151C=	ENSP00000515064.1:p.Arg51=
ENST00000700558.1:n.354C=
ENST00000700559.1:c.1355C=
ENST00000700560.1:n.1355C=
ENST00000700561.1:n.1481C=
ENST00000070846.11:c.2272C=	ENSP00000070846.6:p.Arg758=
ENST00000340811.9:c.2140C= MANE Select	ENSP00000342800.5:p.Arg714=
ENST00000070846.10:c.2272C=	ENSP00000070846.6:p.Arg758=
ENST00000340811.8:c.2140C=	ENSP00000342800.4:p.Arg714=
ENST00000613243.1:c.2272C=	ENSP00000478295.1:p.Arg758=
NM_001005242.2:c.2140C=	NP_001005242.2:p.Arg714=
NM_004572.3:c.2272C= , LRG_398t1:c.2272C=	NP_004563.2:p.Arg758=
NM_001005242.3:c.2140C= MANE Select	NP_001005242.2:p.Arg714=
NM_004572.4:c.2272C=	NP_004563.2:p.Arg758=