Canonical Allele Identifier: CA2026374075

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802432G= , CM000674.2:g.32802432G=	GRCh38
NC_000012.11:g.32955366G= , CM000674.1:g.32955366G=	GRCh37
NC_000012.10:g.32846633G=	NCBI36
NG_009000.1:g.99415C= , LRG_398:g.99415C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.641C=
ENST00000700557.2:n.230C=
ENST00000700559.2:c.2138C=	ENSP00000515065.2:p.Ser713=
ENST00000546498.2:n.825C=
ENST00000549461.2:n.659+18C=
ENST00000700555.1:c.569C=	ENSP00000515062.1:p.Ser190=
ENST00000700556.1:c.609C=
ENST00000700557.1:c.149C=	ENSP00000515064.1:p.Ser50=
ENST00000700558.1:n.352C=
ENST00000700559.1:c.1353C=
ENST00000700560.1:n.1353C=
ENST00000700561.1:n.1479C=
ENST00000070846.11:c.2270C=	ENSP00000070846.6:p.Ser757=
ENST00000340811.9:c.2138C= MANE Select	ENSP00000342800.5:p.Ser713=
ENST00000070846.10:c.2270C=	ENSP00000070846.6:p.Ser757=
ENST00000340811.8:c.2138C=	ENSP00000342800.4:p.Ser713=
ENST00000613243.1:c.2270C=	ENSP00000478295.1:p.Ser757=
NM_001005242.2:c.2138C=	NP_001005242.2:p.Ser713=
NM_004572.3:c.2270C= , LRG_398t1:c.2270C=	NP_004563.2:p.Ser757=
NM_001005242.3:c.2138C= MANE Select	NP_001005242.2:p.Ser713=
NM_004572.4:c.2270C=	NP_004563.2:p.Ser757=