Canonical Allele Identifier: CA2026396277
Gene: PKP2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.429T=
ENST00000700559.2:c.1926T= ENSP00000515065.2:p.Tyr642=
ENST00000700563.2:c.1926T= ENSP00000515066.2:p.Tyr642=
ENST00000546498.2:n.613T=
ENST00000549461.2:n.465T=
ENST00000700555.1:c.357T= ENSP00000515062.1:p.Tyr119=
ENST00000700556.1:c.397T=
ENST00000700558.1:n.140T=
ENST00000700559.1:c.1141T=
ENST00000700560.1:n.1141T=
ENST00000700561.1:n.1267T=
ENST00000700562.1:n.464T=
ENST00000700563.1:c.1880T=
ENST00000700564.1:n.1930T=
ENST00000070846.11:c.2058T= ENSP00000070846.6:p.Tyr686=
ENST00000340811.9:c.1926T= MANE Select ENSP00000342800.5:p.Tyr642=
ENST00000070846.10:c.2058T= ENSP00000070846.6:p.Tyr686=
ENST00000340811.8:c.1926T= ENSP00000342800.4:p.Tyr642=
ENST00000549461.1:n.372T=
ENST00000552612.5:n.347T=
ENST00000613243.1:c.2058T= ENSP00000478295.1:p.Tyr686=
NM_001005242.2:c.1926T= NP_001005242.2:p.Tyr642=
NM_004572.3:c.2058T= , LRG_398t1:c.2058T= NP_004563.2:p.Tyr686=
NM_001005242.3:c.1926T= MANE Select NP_001005242.2:p.Tyr642=
NM_004572.4:c.2058T= NP_004563.2:p.Tyr686=