Canonical Allele Identifier: CA027651

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850822C>T , CM000674.2:g.32850822C>T	GRCh38
NC_000012.11:g.33003756C>T , CM000674.1:g.33003756C>T	GRCh37
NC_000012.10:g.32895023C>T	NCBI36
NG_009000.1:g.51025G>A , LRG_398:g.51025G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.1322G>A MANE Select	NP_001005242.2:p.Arg441Gln
ENST00000340811.9:c.1322G>A MANE Select	ENSP00000342800.5:p.Arg441Gln
NM_001005242.2:c.1322G>A	NP_001005242.2:p.Arg441Gln
NM_004572.3:c.1322G>A , LRG_398t1:c.1322G>A	NP_004563.2:p.Arg441Gln
NM_004572.4:c.1322G>A	NP_004563.2:p.Arg441Gln
ENST00000070846.10:c.1322G>A	ENSP00000070846.6:p.Arg441Gln
ENST00000070846.11:c.1322G>A	ENSP00000070846.6:p.Arg441Gln
ENST00000340811.8:c.1322G>A	ENSP00000342800.4:p.Arg441Gln
ENST00000613243.1:c.1322G>A	ENSP00000478295.1:p.Arg441Gln
ENST00000700559.1:c.537G>A
ENST00000700559.2:c.1322G>A	ENSP00000515065.2:p.Arg441Gln
ENST00000700560.1:n.537G>A
ENST00000700561.1:n.663G>A
ENST00000700563.1:c.1276G>A
ENST00000700563.2:c.1322G>A	ENSP00000515066.2:p.Arg441Gln
ENST00000700564.1:n.1326G>A
ENST00000700565.1:n.1175G>A