Canonical Allele Identifier: CA2026374522

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802552G= , CM000674.2:g.32802552G=	GRCh38
NC_000012.11:g.32955486G= , CM000674.1:g.32955486G=	GRCh37
NC_000012.10:g.32846753G=	NCBI36
NG_009000.1:g.99295C= , LRG_398:g.99295C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.521C=
ENST00000700557.2:n.110C=
ENST00000700559.2:c.2018C=	ENSP00000515065.2:p.Pro673=
ENST00000546498.2:n.705C=
ENST00000549461.2:n.557C=
ENST00000700555.1:c.449C=	ENSP00000515062.1:p.Pro150=
ENST00000700556.1:c.489C=
ENST00000700557.1:c.29C=	ENSP00000515064.1:p.Pro10=
ENST00000700558.1:n.232C=
ENST00000700559.1:c.1233C=
ENST00000700560.1:n.1233C=
ENST00000700561.1:n.1359C=
ENST00000070846.11:c.2150C=	ENSP00000070846.6:p.Pro717=
ENST00000340811.9:c.2018C= MANE Select	ENSP00000342800.5:p.Pro673=
ENST00000070846.10:c.2150C=	ENSP00000070846.6:p.Pro717=
ENST00000340811.8:c.2018C=	ENSP00000342800.4:p.Pro673=
ENST00000549461.1:n.464C=
ENST00000613243.1:c.2150C=	ENSP00000478295.1:p.Pro717=
NM_001005242.2:c.2018C=	NP_001005242.2:p.Pro673=
NM_004572.3:c.2150C= , LRG_398t1:c.2150C=	NP_004563.2:p.Pro717=
NM_001005242.3:c.2018C= MANE Select	NP_001005242.2:p.Pro673=
NM_004572.4:c.2150C=	NP_004563.2:p.Pro717=