Canonical Allele Identifier: CA2026373659

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841142A= , CM000674.2:g.32841142A=	GRCh38
NC_000012.11:g.32994076A= , CM000674.1:g.32994076A=	GRCh37
NC_000012.10:g.32885343A=	NCBI36
NG_009000.1:g.60705T= , LRG_398:g.60705T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1442T=	ENSP00000515065.2:p.Leu481=
ENST00000700563.2:c.1442T=	ENSP00000515066.2:p.Leu481=
ENST00000700559.1:c.657T=
ENST00000700560.1:n.657T=
ENST00000700561.1:n.783T=
ENST00000700563.1:c.1396T=
ENST00000700564.1:n.1446T=
ENST00000700565.1:n.1295T=
ENST00000070846.11:c.1574T=	ENSP00000070846.6:p.Leu525=
ENST00000340811.9:c.1442T= MANE Select	ENSP00000342800.5:p.Leu481=
ENST00000070846.10:c.1574T=	ENSP00000070846.6:p.Leu525=
ENST00000340811.8:c.1442T=	ENSP00000342800.4:p.Leu481=
ENST00000613243.1:c.1574T=	ENSP00000478295.1:p.Leu525=
NM_001005242.2:c.1442T=	NP_001005242.2:p.Leu481=
NM_004572.3:c.1574T= , LRG_398t1:c.1574T=	NP_004563.2:p.Leu525=
NM_001005242.3:c.1442T= MANE Select	NP_001005242.2:p.Leu481=
NM_004572.4:c.1574T=	NP_004563.2:p.Leu525=