Canonical Allele Identifier: CA011740

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821372G>A , CM000674.2:g.32821372G>A	GRCh38
NC_000012.11:g.32974306G>A , CM000674.1:g.32974306G>A	GRCh37
NC_000012.10:g.32865573G>A	NCBI36
NG_009000.1:g.80475C>T , LRG_398:g.80475C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.500C>T
ENST00000700559.2:c.1997C>T	ENSP00000515065.2:p.Thr666Met
ENST00000700563.2:c.1997C>T	ENSP00000515066.2:p.Thr666Met
ENST00000546498.2:n.684C>T
ENST00000549461.2:n.536C>T
ENST00000700555.1:c.428C>T	ENSP00000515062.1:p.Thr143Met
ENST00000700556.1:c.468C>T
ENST00000700558.1:n.211C>T
ENST00000700559.1:c.1212C>T
ENST00000700560.1:n.1212C>T
ENST00000700561.1:n.1338C>T
ENST00000700562.1:n.535C>T
ENST00000700563.1:c.1951C>T
ENST00000700564.1:n.2001C>T
ENST00000070846.11:c.2129C>T	ENSP00000070846.6:p.Thr710Met
ENST00000340811.9:c.1997C>T MANE Select	ENSP00000342800.5:p.Thr666Met
ENST00000070846.10:c.2129C>T	ENSP00000070846.6:p.Thr710Met
ENST00000340811.8:c.1997C>T	ENSP00000342800.4:p.Thr666Met
ENST00000549461.1:n.443C>T
ENST00000552612.5:n.418C>T
ENST00000613243.1:c.2129C>T	ENSP00000478295.1:p.Thr710Met
NM_001005242.2:c.1997C>T	NP_001005242.2:p.Thr666Met
NM_004572.3:c.2129C>T , LRG_398t1:c.2129C>T	NP_004563.2:p.Thr710Met
NM_001005242.3:c.1997C>T MANE Select	NP_001005242.2:p.Thr666Met
NM_004572.4:c.2129C>T	NP_004563.2:p.Thr710Met