Canonical Allele Identifier: CA2026398564

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824103A= , CM000674.2:g.32824103A=	GRCh38
NC_000012.11:g.32977037A= , CM000674.1:g.32977037A=	GRCh37
NC_000012.10:g.32868304A=	NCBI36
NG_009000.1:g.77744T= , LRG_398:g.77744T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.128T=
ENST00000700559.2:c.1616T=	ENSP00000515065.2:p.Ile539=
ENST00000700563.2:c.1616T=	ENSP00000515066.2:p.Ile539=
ENST00000546498.2:n.303T=
ENST00000700555.1:c.56T=	ENSP00000515062.1:p.Ile19=
ENST00000700556.1:c.87T=
ENST00000700559.1:c.831T=
ENST00000700560.1:n.831T=
ENST00000700561.1:n.957T=
ENST00000700563.1:c.1570T=
ENST00000700564.1:n.1620T=
ENST00000070846.11:c.1748T=	ENSP00000070846.6:p.Ile583=
ENST00000340811.9:c.1616T= MANE Select	ENSP00000342800.5:p.Ile539=
ENST00000070846.10:c.1748T=	ENSP00000070846.6:p.Ile583=
ENST00000340811.8:c.1616T=	ENSP00000342800.4:p.Ile539=
ENST00000546498.1:n.303T=
ENST00000552612.5:n.37T=
ENST00000613243.1:c.1748T=	ENSP00000478295.1:p.Ile583=
NM_001005242.2:c.1616T=	NP_001005242.2:p.Ile539=
NM_004572.3:c.1748T= , LRG_398t1:c.1748T=	NP_004563.2:p.Ile583=
NM_001005242.3:c.1616T= MANE Select	NP_001005242.2:p.Ile539=
NM_004572.4:c.1748T=	NP_004563.2:p.Ile583=