Canonical Allele Identifier: CA2026374907
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32802730C= , CM000674.2:g.32802730C= GRCh38
NC_000012.11:g.32955664C= , CM000674.1:g.32955664C= GRCh37
NC_000012.10:g.32846931C= NCBI36
NG_009000.1:g.99117G= , LRG_398:g.99117G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.517-174G=
ENST00000700557.2:n.106-174G=
ENST00000700559.2:c.2014-174G= ENSP00000515065.2:n.2014-174G=
ENST00000546498.2:n.701-174G=
ENST00000549461.2:n.553-174G=
ENST00000700555.1:c.445-174G= ENSP00000515062.1:n.445-174G=
ENST00000700556.1:c.485-174G=
ENST00000700557.1:c.25-174G= ENSP00000515064.1:n.25-174G=
ENST00000700558.1:n.228-174G=
ENST00000700559.1:c.1229-174G=
ENST00000700560.1:n.1229-174G=
ENST00000700561.1:n.1355-174G=
ENST00000070846.11:c.2146-174G= ENSP00000070846.6:n.2146-174G=
ENST00000340811.9:c.2014-174G= MANE Select ENSP00000342800.5:n.2014-174G=
ENST00000070846.10:c.2146-174G= ENSP00000070846.6:n.2146-174G=
ENST00000340811.8:c.2014-174G= ENSP00000342800.4:n.2014-174G=
ENST00000549461.1:n.460-174G=
ENST00000613243.1:c.2146-174G= ENSP00000478295.1:n.2146-174G=
NM_001005242.2:c.2014-174G= NP_001005242.2:n.2014-174G=
NM_004572.3:c.2146-174G= , LRG_398t1:c.2146-174G= NP_004563.2:n.2146-174G=
NM_001005242.3:c.2014-174G= MANE Select NP_001005242.2:n.2014-174G=
NM_004572.4:c.2146-174G= NP_004563.2:n.2146-174G=