Canonical Allele Identifier: CA031154

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822577C>T , CM000674.2:g.32822577C>T	GRCh38
NC_000012.11:g.32975511C>T , CM000674.1:g.32975511C>T	GRCh37
NC_000012.10:g.32866778C>T	NCBI36
NG_009000.1:g.79270G>A , LRG_398:g.79270G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.1729G>A MANE Select	NP_001005242.2:p.Glu577Lys
ENST00000340811.9:c.1729G>A MANE Select	ENSP00000342800.5:p.Glu577Lys
NM_001005242.2:c.1729G>A	NP_001005242.2:p.Glu577Lys
NM_004572.3:c.1861G>A , LRG_398t1:c.1861G>A	NP_004563.2:p.Glu621Lys
NM_004572.4:c.1861G>A	NP_004563.2:p.Glu621Lys
ENST00000070846.10:c.1861G>A	ENSP00000070846.6:p.Glu621Lys
ENST00000070846.11:c.1861G>A	ENSP00000070846.6:p.Glu621Lys
ENST00000340811.8:c.1729G>A	ENSP00000342800.4:p.Glu577Lys
ENST00000546498.1:n.416G>A
ENST00000546498.2:n.416G>A
ENST00000552612.5:n.150G>A
ENST00000613243.1:c.1861G>A	ENSP00000478295.1:p.Glu621Lys
ENST00000700555.1:c.169G>A	ENSP00000515062.1:p.Glu57Lys
ENST00000700555.2:n.241G>A
ENST00000700556.1:c.200G>A
ENST00000700559.1:c.944G>A
ENST00000700559.2:c.1729G>A	ENSP00000515065.2:p.Glu577Lys
ENST00000700560.1:n.944G>A
ENST00000700561.1:n.1070G>A
ENST00000700563.1:c.1683G>A
ENST00000700563.2:c.1729G>A	ENSP00000515066.2:p.Glu577Lys
ENST00000700564.1:n.1733G>A