Canonical Allele Identifier: CA384361888

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32974401C>A (hg19) ; chr12:g.32821467C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821467C>A , CM000674.2:g.32821467C>A	GRCh38
NC_000012.11:g.32974401C>A , CM000674.1:g.32974401C>A	GRCh37
NC_000012.10:g.32865668C>A	NCBI36
NG_009000.1:g.80380G>T , LRG_398:g.80380G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.405G>T
ENST00000700559.2:c.1902G>T	ENSP00000515065.2:p.Trp634Cys
ENST00000700563.2:c.1902G>T	ENSP00000515066.2:p.Trp634Cys
ENST00000546498.2:n.589G>T
ENST00000549461.2:n.441G>T
ENST00000700555.1:c.333G>T	ENSP00000515062.1:p.Trp111Cys
ENST00000700556.1:c.373G>T
ENST00000700558.1:n.116G>T
ENST00000700559.1:c.1117G>T
ENST00000700560.1:n.1117G>T
ENST00000700561.1:n.1243G>T
ENST00000700562.1:n.440G>T
ENST00000700563.1:c.1856G>T
ENST00000700564.1:n.1906G>T
ENST00000070846.11:c.2034G>T	ENSP00000070846.6:p.Trp678Cys
ENST00000340811.9:c.1902G>T MANE Select	ENSP00000342800.5:p.Trp634Cys
ENST00000070846.10:c.2034G>T	ENSP00000070846.6:p.Trp678Cys
ENST00000340811.8:c.1902G>T	ENSP00000342800.4:p.Trp634Cys
ENST00000546498.1:n.589G>T
ENST00000549461.1:n.348G>T
ENST00000552612.5:n.323G>T
ENST00000613243.1:c.2034G>T	ENSP00000478295.1:p.Trp678Cys
NM_001005242.2:c.1902G>T	NP_001005242.2:p.Trp634Cys
NM_004572.3:c.2034G>T , LRG_398t1:c.2034G>T	NP_004563.2:p.Trp678Cys
NM_001005242.3:c.1902G>T MANE Select	NP_001005242.2:p.Trp634Cys
NM_004572.4:c.2034G>T	NP_004563.2:p.Trp678Cys