Canonical Allele Identifier: CA2026389548

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850852A= , CM000674.2:g.32850852A=	GRCh38
NC_000012.11:g.33003786A= , CM000674.1:g.33003786A=	GRCh37
NC_000012.10:g.32895053A=	NCBI36
NG_009000.1:g.50995T= , LRG_398:g.50995T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.1292T= MANE Select	NP_001005242.2:p.Leu431=
ENST00000340811.9:c.1292T= MANE Select	ENSP00000342800.5:p.Leu431=
NM_001005242.2:c.1292T=	NP_001005242.2:p.Leu431=
NM_004572.3:c.1292T= , LRG_398t1:c.1292T=	NP_004563.2:p.Leu431=
NM_004572.4:c.1292T=	NP_004563.2:p.Leu431=
ENST00000070846.10:c.1292T=	ENSP00000070846.6:p.Leu431=
ENST00000070846.11:c.1292T=	ENSP00000070846.6:p.Leu431=
ENST00000340811.8:c.1292T=	ENSP00000342800.4:p.Leu431=
ENST00000613243.1:c.1292T=	ENSP00000478295.1:p.Leu431=
ENST00000700559.1:c.507T=
ENST00000700559.2:c.1292T=	ENSP00000515065.2:p.Leu431=
ENST00000700560.1:n.507T=
ENST00000700561.1:n.633T=
ENST00000700563.1:c.1246T=
ENST00000700563.2:c.1292T=	ENSP00000515066.2:p.Leu431=
ENST00000700564.1:n.1296T=
ENST00000700565.1:n.1145T=