Canonical Allele Identifier: CA036264

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792464T>G , CM000674.2:g.32792464T>G	GRCh38
NC_000012.11:g.32945398T>G , CM000674.1:g.32945398T>G	GRCh37
NC_000012.10:g.32836665T>G	NCBI36
NG_009000.1:g.109383A>C , LRG_398:g.109383A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.2474A>C MANE Select	NP_001005242.2:p.Asn825Thr
ENST00000340811.9:c.2474A>C MANE Select	ENSP00000342800.5:p.Asn825Thr
NM_001005242.2:c.2474A>C	NP_001005242.2:p.Asn825Thr
NM_004572.3:c.2606A>C , LRG_398t1:c.2606A>C	NP_004563.2:p.Asn869Thr
NM_004572.4:c.2606A>C	NP_004563.2:p.Asn869Thr
ENST00000070846.10:c.2606A>C	ENSP00000070846.6:p.Asn869Thr
ENST00000070846.11:c.2606A>C	ENSP00000070846.6:p.Asn869Thr
ENST00000340811.8:c.2474A>C	ENSP00000342800.4:p.Asn825Thr
ENST00000546498.2:n.1161A>C
ENST00000546769.1:n.261A>C
ENST00000549461.2:n.966A>C
ENST00000613243.1:c.2604A>C	ENSP00000478295.1:n.2604A>C
ENST00000700555.1:c.905A>C	ENSP00000515062.1:p.Asn302Thr
ENST00000700555.2:n.977A>C
ENST00000700556.1:c.945A>C
ENST00000700557.1:c.485A>C	ENSP00000515064.1:p.Asn162Thr
ENST00000700557.2:n.566A>C
ENST00000700558.1:n.688A>C
ENST00000700559.1:c.1499A>C
ENST00000700559.2:c.2284A>C	ENSP00000515065.2:p.Thr762Pro
ENST00000700560.1:n.1840A>C