Canonical Allele Identifier: CA384357909

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32949199A>T (hg19) ; chr12:g.32796265A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796265A>T , CM000674.2:g.32796265A>T	GRCh38
NC_000012.11:g.32949199A>T , CM000674.1:g.32949199A>T	GRCh37
NC_000012.10:g.32840466A>T	NCBI36
NG_009000.1:g.105582T>A , LRG_398:g.105582T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.704T>A
ENST00000700557.2:n.293T>A
ENST00000700559.2:c.2168-3534T>A	ENSP00000515065.2:n.2168-3534T>A
ENST00000546498.2:n.888T>A
ENST00000549461.2:n.693T>A
ENST00000700555.1:c.632T>A	ENSP00000515062.1:p.Ile211Asn
ENST00000700556.1:c.672T>A
ENST00000700557.1:c.212T>A	ENSP00000515064.1:p.Ile71Asn
ENST00000700558.1:n.415T>A
ENST00000700559.1:c.1383-3534T>A
ENST00000700560.1:n.1416T>A
ENST00000700561.1:n.1542T>A
ENST00000070846.11:c.2333T>A	ENSP00000070846.6:p.Ile778Asn
ENST00000340811.9:c.2201T>A MANE Select	ENSP00000342800.5:p.Ile734Asn
ENST00000070846.10:c.2333T>A	ENSP00000070846.6:p.Ile778Asn
ENST00000340811.8:c.2201T>A	ENSP00000342800.4:p.Ile734Asn
ENST00000613243.1:c.2333T>A	ENSP00000478295.1:p.Ile778Asn
NM_001005242.2:c.2201T>A	NP_001005242.2:p.Ile734Asn
NM_004572.3:c.2333T>A , LRG_398t1:c.2333T>A	NP_004563.2:p.Ile778Asn
NM_001005242.3:c.2201T>A MANE Select	NP_001005242.2:p.Ile734Asn
NM_004572.4:c.2333T>A	NP_004563.2:p.Ile778Asn