Canonical Allele Identifier: CA011408

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32896556T>A , CM000674.2:g.32896556T>A	GRCh38
NC_000012.11:g.33049490T>A , CM000674.1:g.33049490T>A	GRCh37
NC_000012.10:g.32940757T>A	NCBI36
NG_009000.1:g.5291A>T , LRG_398:g.5291A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.176A>T MANE Select	NP_001005242.2:p.Gln59Leu
ENST00000340811.9:c.176A>T MANE Select	ENSP00000342800.5:p.Gln59Leu
NM_001005242.2:c.176A>T	NP_001005242.2:p.Gln59Leu
NM_004572.3:c.176A>T , LRG_398t1:c.176A>T	NP_004563.2:p.Gln59Leu
NM_004572.4:c.176A>T	NP_004563.2:p.Gln59Leu
ENST00000070846.10:c.176A>T	ENSP00000070846.6:p.Gln59Leu
ENST00000070846.11:c.176A>T	ENSP00000070846.6:p.Gln59Leu
ENST00000340811.8:c.176A>T	ENSP00000342800.4:p.Gln59Leu
ENST00000546741.2:c.46A>T
ENST00000546741.3:c.176A>T	ENSP00000481383.2:p.Gln59Leu
ENST00000613243.1:c.176A>T	ENSP00000478295.1:p.Gln59Leu
ENST00000700559.2:c.176A>T	ENSP00000515065.2:p.Gln59Leu
ENST00000700563.1:c.130A>T
ENST00000700563.2:c.176A>T	ENSP00000515066.2:p.Gln59Leu
ENST00000700564.1:n.180A>T
ENST00000700565.1:n.29A>T