Canonical Allele Identifier: CA2026396418

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821518G= , CM000674.2:g.32821518G=	GRCh38
NC_000012.11:g.32974452G= , CM000674.1:g.32974452G=	GRCh37
NC_000012.10:g.32865719G=	NCBI36
NG_009000.1:g.80329C= , LRG_398:g.80329C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.354C=
ENST00000700559.2:c.1851C=	ENSP00000515065.2:p.Asp617=
ENST00000700563.2:c.1851C=	ENSP00000515066.2:p.Asp617=
ENST00000546498.2:n.538C=
ENST00000549461.2:n.390C=
ENST00000700555.1:c.282C=	ENSP00000515062.1:p.Asp94=
ENST00000700556.1:c.322C=
ENST00000700558.1:n.65C=
ENST00000700559.1:c.1066C=
ENST00000700560.1:n.1066C=
ENST00000700561.1:n.1192C=
ENST00000700562.1:n.389C=
ENST00000700563.1:c.1805C=
ENST00000700564.1:n.1855C=
ENST00000070846.11:c.1983C=	ENSP00000070846.6:p.Asp661=
ENST00000340811.9:c.1851C= MANE Select	ENSP00000342800.5:p.Asp617=
ENST00000070846.10:c.1983C=	ENSP00000070846.6:p.Asp661=
ENST00000340811.8:c.1851C=	ENSP00000342800.4:p.Asp617=
ENST00000546498.1:n.538C=
ENST00000549461.1:n.297C=
ENST00000552612.5:n.272C=
ENST00000613243.1:c.1983C=	ENSP00000478295.1:p.Asp661=
NM_001005242.2:c.1851C=	NP_001005242.2:p.Asp617=
NM_004572.3:c.1983C= , LRG_398t1:c.1983C=	NP_004563.2:p.Asp661=
NM_001005242.3:c.1851C= MANE Select	NP_001005242.2:p.Asp617=
NM_004572.4:c.1983C=	NP_004563.2:p.Asp661=