Canonical Allele Identifier: CA384359181

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955343C>T (hg19) ; chr12:g.32802409C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802409C>T , CM000674.2:g.32802409C>T	GRCh38
NC_000012.11:g.32955343C>T , CM000674.1:g.32955343C>T	GRCh37
NC_000012.10:g.32846610C>T	NCBI36
NG_009000.1:g.99438G>A , LRG_398:g.99438G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.664G>A
ENST00000700557.2:n.253G>A
ENST00000700559.2:c.2161G>A	ENSP00000515065.2:p.Glu721Lys
ENST00000546498.2:n.848G>A
ENST00000549461.2:n.659+41G>A
ENST00000700555.1:c.592G>A	ENSP00000515062.1:p.Glu198Lys
ENST00000700556.1:c.632G>A
ENST00000700557.1:c.172G>A	ENSP00000515064.1:p.Glu58Lys
ENST00000700558.1:n.375G>A
ENST00000700559.1:c.1376G>A
ENST00000700560.1:n.1376G>A
ENST00000700561.1:n.1502G>A
ENST00000070846.11:c.2293G>A	ENSP00000070846.6:p.Glu765Lys
ENST00000340811.9:c.2161G>A MANE Select	ENSP00000342800.5:p.Glu721Lys
ENST00000070846.10:c.2293G>A	ENSP00000070846.6:p.Glu765Lys
ENST00000340811.8:c.2161G>A	ENSP00000342800.4:p.Glu721Lys
ENST00000613243.1:c.2293G>A	ENSP00000478295.1:p.Glu765Lys
NM_001005242.2:c.2161G>A	NP_001005242.2:p.Glu721Lys
NM_004572.3:c.2293G>A , LRG_398t1:c.2293G>A	NP_004563.2:p.Glu765Lys
NM_001005242.3:c.2161G>A MANE Select	NP_001005242.2:p.Glu721Lys
NM_004572.4:c.2293G>A	NP_004563.2:p.Glu765Lys