Canonical Allele Identifier: CA2026374431
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32802532C= , CM000674.2:g.32802532C= GRCh38
NC_000012.11:g.32955466C= , CM000674.1:g.32955466C= GRCh37
NC_000012.10:g.32846733C= NCBI36
NG_009000.1:g.99315G= , LRG_398:g.99315G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.541G=
ENST00000700557.2:n.130G=
ENST00000700559.2:c.2038G= ENSP00000515065.2:p.Val680=
ENST00000546498.2:n.725G=
ENST00000549461.2:n.577G=
ENST00000700555.1:c.469G= ENSP00000515062.1:p.Val157=
ENST00000700556.1:c.509G=
ENST00000700557.1:c.49G= ENSP00000515064.1:p.Val17=
ENST00000700558.1:n.252G=
ENST00000700559.1:c.1253G=
ENST00000700560.1:n.1253G=
ENST00000700561.1:n.1379G=
ENST00000070846.11:c.2170G= ENSP00000070846.6:p.Val724=
ENST00000340811.9:c.2038G= MANE Select ENSP00000342800.5:p.Val680=
ENST00000070846.10:c.2170G= ENSP00000070846.6:p.Val724=
ENST00000340811.8:c.2038G= ENSP00000342800.4:p.Val680=
ENST00000549461.1:n.484G=
ENST00000613243.1:c.2170G= ENSP00000478295.1:p.Val724=
NM_001005242.2:c.2038G= NP_001005242.2:p.Val680=
NM_004572.3:c.2170G= , LRG_398t1:c.2170G= NP_004563.2:p.Val724=
NM_001005242.3:c.2038G= MANE Select NP_001005242.2:p.Val680=
NM_004572.4:c.2170G= NP_004563.2:p.Val724=