Canonical Allele Identifier: CA384357949

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32949218G>T (hg19) ; chr12:g.32796284G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796284G>T , CM000674.2:g.32796284G>T	GRCh38
NC_000012.11:g.32949218G>T , CM000674.1:g.32949218G>T	GRCh37
NC_000012.10:g.32840485G>T	NCBI36
NG_009000.1:g.105563C>A , LRG_398:g.105563C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.685C>A
ENST00000700557.2:n.274C>A
ENST00000700559.2:c.2168-3553C>A	ENSP00000515065.2:n.2168-3553C>A
ENST00000546498.2:n.869C>A
ENST00000549461.2:n.674C>A
ENST00000700555.1:c.613C>A	ENSP00000515062.1:p.Pro205Thr
ENST00000700556.1:c.653C>A
ENST00000700557.1:c.193C>A	ENSP00000515064.1:p.Pro65Thr
ENST00000700558.1:n.396C>A
ENST00000700559.1:c.1383-3553C>A
ENST00000700560.1:n.1397C>A
ENST00000700561.1:n.1523C>A
ENST00000070846.11:c.2314C>A	ENSP00000070846.6:p.Pro772Thr
ENST00000340811.9:c.2182C>A MANE Select	ENSP00000342800.5:p.Pro728Thr
ENST00000070846.10:c.2314C>A	ENSP00000070846.6:p.Pro772Thr
ENST00000340811.8:c.2182C>A	ENSP00000342800.4:p.Pro728Thr
ENST00000613243.1:c.2314C>A	ENSP00000478295.1:p.Pro772Thr
NM_001005242.2:c.2182C>A	NP_001005242.2:p.Pro728Thr
NM_004572.3:c.2314C>A , LRG_398t1:c.2314C>A	NP_004563.2:p.Pro772Thr
NM_001005242.3:c.2182C>A MANE Select	NP_001005242.2:p.Pro728Thr
NM_004572.4:c.2314C>A	NP_004563.2:p.Pro772Thr