Canonical Allele Identifier: CA2026359989
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796146C= , CM000674.2:g.32796146C= GRCh38
NC_000012.11:g.32949080C= , CM000674.1:g.32949080C= GRCh37
NC_000012.10:g.32840347C= NCBI36
NG_009000.1:g.105701G= , LRG_398:g.105701G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.823G=
ENST00000700557.2:n.412G=
ENST00000700559.2:c.2168-3415G= ENSP00000515065.2:n.2168-3415G=
ENST00000546498.2:n.1007G=
ENST00000549461.2:n.812G=
ENST00000700555.1:c.751G= ENSP00000515062.1:p.Gly251=
ENST00000700556.1:c.791G=
ENST00000700557.1:c.331G= ENSP00000515064.1:p.Gly111=
ENST00000700558.1:n.534G=
ENST00000700559.1:c.1383-3415G=
ENST00000700560.1:n.1535G=
ENST00000700561.1:n.1661G=
ENST00000070846.11:c.2452G= ENSP00000070846.6:p.Gly818=
ENST00000340811.9:c.2320G= MANE Select ENSP00000342800.5:p.Gly774=
ENST00000070846.10:c.2452G= ENSP00000070846.6:p.Gly818=
ENST00000340811.8:c.2320G= ENSP00000342800.4:p.Gly774=
ENST00000613243.1:c.2450G= ENSP00000478295.1:p.Gly817=
NM_001005242.2:c.2320G= NP_001005242.2:p.Gly774=
NM_004572.3:c.2452G= , LRG_398t1:c.2452G= NP_004563.2:p.Gly818=
NM_001005242.3:c.2320G= MANE Select NP_001005242.2:p.Gly774=
NM_004572.4:c.2452G= NP_004563.2:p.Gly818=