Canonical Allele Identifier: CA2026397061

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822589G= , CM000674.2:g.32822589G=	GRCh38
NC_000012.11:g.32975523G= , CM000674.1:g.32975523G=	GRCh37
NC_000012.10:g.32866790G=	NCBI36
NG_009000.1:g.79258C= , LRG_398:g.79258C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.1717C= MANE Select	NP_001005242.2:p.Gln573=
ENST00000340811.9:c.1717C= MANE Select	ENSP00000342800.5:p.Gln573=
NM_001005242.2:c.1717C=	NP_001005242.2:p.Gln573=
NM_004572.3:c.1849C= , LRG_398t1:c.1849C=	NP_004563.2:p.Gln617=
NM_004572.4:c.1849C=	NP_004563.2:p.Gln617=
ENST00000070846.10:c.1849C=	ENSP00000070846.6:p.Gln617=
ENST00000070846.11:c.1849C=	ENSP00000070846.6:p.Gln617=
ENST00000340811.8:c.1717C=	ENSP00000342800.4:p.Gln573=
ENST00000546498.1:n.404C=
ENST00000546498.2:n.404C=
ENST00000552612.5:n.138C=
ENST00000613243.1:c.1849C=	ENSP00000478295.1:p.Gln617=
ENST00000700555.1:c.157C=	ENSP00000515062.1:p.Gln53=
ENST00000700555.2:n.229C=
ENST00000700556.1:c.188C=
ENST00000700559.1:c.932C=
ENST00000700559.2:c.1717C=	ENSP00000515065.2:p.Gln573=
ENST00000700560.1:n.932C=
ENST00000700561.1:n.1058C=
ENST00000700563.1:c.1671C=
ENST00000700563.2:c.1717C=	ENSP00000515066.2:p.Gln573=
ENST00000700564.1:n.1721C=