Canonical Allele Identifier: CA2026359912

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796118G= , CM000674.2:g.32796118G=	GRCh38
NC_000012.11:g.32949052G= , CM000674.1:g.32949052G=	GRCh37
NC_000012.10:g.32840319G=	NCBI36
NG_009000.1:g.105729C= , LRG_398:g.105729C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.851C=
ENST00000700557.2:n.440C=
ENST00000700559.2:c.2168-3387C=	ENSP00000515065.2:n.2168-3387C=
ENST00000546498.2:n.1035C=
ENST00000549461.2:n.840C=
ENST00000700555.1:c.779C=	ENSP00000515062.1:p.Ala260=
ENST00000700556.1:c.819C=
ENST00000700557.1:c.359C=	ENSP00000515064.1:p.Ala120=
ENST00000700558.1:n.562C=
ENST00000700559.1:c.1383-3387C=
ENST00000700560.1:n.1563C=
ENST00000700561.1:n.1689C=
ENST00000070846.11:c.2480C=	ENSP00000070846.6:p.Ala827=
ENST00000340811.9:c.2348C= MANE Select	ENSP00000342800.5:p.Ala783=
ENST00000070846.10:c.2480C=	ENSP00000070846.6:p.Ala827=
ENST00000340811.8:c.2348C=	ENSP00000342800.4:p.Ala783=
ENST00000613243.1:c.2478C=	ENSP00000478295.1:n.2478C=
NM_001005242.2:c.2348C=	NP_001005242.2:p.Ala783=
NM_004572.3:c.2480C= , LRG_398t1:c.2480C=	NP_004563.2:p.Ala827=
NM_001005242.3:c.2348C= MANE Select	NP_001005242.2:p.Ala783=
NM_004572.4:c.2480C=	NP_004563.2:p.Ala827=