Canonical Allele Identifier: CA384361815

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821443A>T , CM000674.2:g.32821443A>T	GRCh38
NC_000012.11:g.32974377A>T , CM000674.1:g.32974377A>T	GRCh37
NC_000012.10:g.32865644A>T	NCBI36
NG_009000.1:g.80404T>A , LRG_398:g.80404T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.429T>A
ENST00000700559.2:c.1926T>A	ENSP00000515065.2:p.Tyr642Ter
ENST00000700563.2:c.1926T>A	ENSP00000515066.2:p.Tyr642Ter
ENST00000546498.2:n.613T>A
ENST00000549461.2:n.465T>A
ENST00000700555.1:c.357T>A	ENSP00000515062.1:p.Tyr119Ter
ENST00000700556.1:c.397T>A
ENST00000700558.1:n.140T>A
ENST00000700559.1:c.1141T>A
ENST00000700560.1:n.1141T>A
ENST00000700561.1:n.1267T>A
ENST00000700562.1:n.464T>A
ENST00000700563.1:c.1880T>A
ENST00000700564.1:n.1930T>A
ENST00000070846.11:c.2058T>A	ENSP00000070846.6:p.Tyr686Ter
ENST00000340811.9:c.1926T>A MANE Select	ENSP00000342800.5:p.Tyr642Ter
ENST00000070846.10:c.2058T>A	ENSP00000070846.6:p.Tyr686Ter
ENST00000340811.8:c.1926T>A	ENSP00000342800.4:p.Tyr642Ter
ENST00000549461.1:n.372T>A
ENST00000552612.5:n.347T>A
ENST00000613243.1:c.2058T>A	ENSP00000478295.1:p.Tyr686Ter
NM_001005242.2:c.1926T>A	NP_001005242.2:p.Tyr642Ter
NM_004572.3:c.2058T>A , LRG_398t1:c.2058T>A	NP_004563.2:p.Tyr686Ter
NM_001005242.3:c.1926T>A MANE Select	NP_001005242.2:p.Tyr642Ter
NM_004572.4:c.2058T>A	NP_004563.2:p.Tyr686Ter