Canonical Allele Identifier: CA2026360549
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796292T= , CM000674.2:g.32796292T= GRCh38
NC_000012.11:g.32949226T= , CM000674.1:g.32949226T= GRCh37
NC_000012.10:g.32840493T= NCBI36
NG_009000.1:g.105555A= , LRG_398:g.105555A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.677A=
ENST00000700557.2:n.266A=
ENST00000700559.2:c.2168-3561A= ENSP00000515065.2:n.2168-3561A=
ENST00000546498.2:n.861A=
ENST00000549461.2:n.666A=
ENST00000700555.1:c.605A= ENSP00000515062.1:p.Glu202=
ENST00000700556.1:c.645A=
ENST00000700557.1:c.185A= ENSP00000515064.1:p.Glu62=
ENST00000700558.1:n.388A=
ENST00000700559.1:c.1383-3561A=
ENST00000700560.1:n.1389A=
ENST00000700561.1:n.1515A=
ENST00000070846.11:c.2306A= ENSP00000070846.6:p.Glu769=
ENST00000340811.9:c.2174A= MANE Select ENSP00000342800.5:p.Glu725=
ENST00000070846.10:c.2306A= ENSP00000070846.6:p.Glu769=
ENST00000340811.8:c.2174A= ENSP00000342800.4:p.Glu725=
ENST00000613243.1:c.2306A= ENSP00000478295.1:p.Glu769=
NM_001005242.2:c.2174A= NP_001005242.2:p.Glu725=
NM_004572.3:c.2306A= , LRG_398t1:c.2306A= NP_004563.2:p.Glu769=
NM_001005242.3:c.2174A= MANE Select NP_001005242.2:p.Glu725=
NM_004572.4:c.2306A= NP_004563.2:p.Glu769=