Canonical Allele Identifier: CA2026359894
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796116C= , CM000674.2:g.32796116C= GRCh38
NC_000012.11:g.32949050C= , CM000674.1:g.32949050C= GRCh37
NC_000012.10:g.32840317C= NCBI36
NG_009000.1:g.105731G= , LRG_398:g.105731G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.853G=
ENST00000700557.2:n.442G=
ENST00000700559.2:c.2168-3385G= ENSP00000515065.2:n.2168-3385G=
ENST00000546498.2:n.1037G=
ENST00000549461.2:n.842G=
ENST00000700555.1:c.781G= ENSP00000515062.1:p.Gly261=
ENST00000700556.1:c.821G=
ENST00000700557.1:c.361G= ENSP00000515064.1:p.Gly121=
ENST00000700558.1:n.564G=
ENST00000700559.1:c.1383-3385G=
ENST00000700560.1:n.1565G=
ENST00000700561.1:n.1691G=
ENST00000070846.11:c.2482G= ENSP00000070846.6:p.Gly828=
ENST00000340811.9:c.2350G= MANE Select ENSP00000342800.5:p.Gly784=
ENST00000070846.10:c.2482G= ENSP00000070846.6:p.Gly828=
ENST00000340811.8:c.2350G= ENSP00000342800.4:p.Gly784=
ENST00000613243.1:c.2480G= ENSP00000478295.1:n.2480G=
NM_001005242.2:c.2350G= NP_001005242.2:p.Gly784=
NM_004572.3:c.2482G= , LRG_398t1:c.2482G= NP_004563.2:p.Gly828=
NM_001005242.3:c.2350G= MANE Select NP_001005242.2:p.Gly784=
NM_004572.4:c.2482G= NP_004563.2:p.Gly828=