Canonical Allele Identifier: CA2026396993

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822535G= , CM000674.2:g.32822535G=	GRCh38
NC_000012.11:g.32975469G= , CM000674.1:g.32975469G=	GRCh37
NC_000012.10:g.32866736G=	NCBI36
NG_009000.1:g.79312C= , LRG_398:g.79312C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.283C=
ENST00000700559.2:c.1771C=	ENSP00000515065.2:p.Arg591=
ENST00000700563.2:c.1771C=	ENSP00000515066.2:p.Arg591=
ENST00000546498.2:n.458C=
ENST00000700555.1:c.211C=	ENSP00000515062.1:p.Arg71=
ENST00000700556.1:c.242C=
ENST00000700559.1:c.986C=
ENST00000700560.1:n.986C=
ENST00000700561.1:n.1112C=
ENST00000700563.1:c.1725C=
ENST00000700564.1:n.1775C=
ENST00000070846.11:c.1903C=	ENSP00000070846.6:p.Arg635=
ENST00000340811.9:c.1771C= MANE Select	ENSP00000342800.5:p.Arg591=
ENST00000070846.10:c.1903C=	ENSP00000070846.6:p.Arg635=
ENST00000340811.8:c.1771C=	ENSP00000342800.4:p.Arg591=
ENST00000546498.1:n.458C=
ENST00000552612.5:n.192C=
ENST00000613243.1:c.1903C=	ENSP00000478295.1:p.Arg635=
NM_001005242.2:c.1771C=	NP_001005242.2:p.Arg591=
NM_004572.3:c.1903C= , LRG_398t1:c.1903C=	NP_004563.2:p.Arg635=
NM_001005242.3:c.1771C= MANE Select	NP_001005242.2:p.Arg591=
NM_004572.4:c.1903C=	NP_004563.2:p.Arg635=