Canonical Allele Identifier: CA384363375

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822587C>A , CM000674.2:g.32822587C>A	GRCh38
NC_000012.11:g.32975521C>A , CM000674.1:g.32975521C>A	GRCh37
NC_000012.10:g.32866788C>A	NCBI36
NG_009000.1:g.79260G>T , LRG_398:g.79260G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.231G>T
ENST00000700559.2:c.1719G>T	ENSP00000515065.2:p.Gln573His
ENST00000700563.2:c.1719G>T	ENSP00000515066.2:p.Gln573His
ENST00000546498.2:n.406G>T
ENST00000700555.1:c.159G>T	ENSP00000515062.1:p.Gln53His
ENST00000700556.1:c.190G>T
ENST00000700559.1:c.934G>T
ENST00000700560.1:n.934G>T
ENST00000700561.1:n.1060G>T
ENST00000700563.1:c.1673G>T
ENST00000700564.1:n.1723G>T
ENST00000070846.11:c.1851G>T	ENSP00000070846.6:p.Gln617His
ENST00000340811.9:c.1719G>T MANE Select	ENSP00000342800.5:p.Gln573His
ENST00000070846.10:c.1851G>T	ENSP00000070846.6:p.Gln617His
ENST00000340811.8:c.1719G>T	ENSP00000342800.4:p.Gln573His
ENST00000546498.1:n.406G>T
ENST00000552612.5:n.140G>T
ENST00000613243.1:c.1851G>T	ENSP00000478295.1:p.Gln617His
NM_001005242.2:c.1719G>T	NP_001005242.2:p.Gln573His
NM_004572.3:c.1851G>T , LRG_398t1:c.1851G>T	NP_004563.2:p.Gln617His
NM_001005242.3:c.1719G>T MANE Select	NP_001005242.2:p.Gln573His
NM_004572.4:c.1851G>T	NP_004563.2:p.Gln617His