Canonical Allele Identifier: CA2026374005
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32802412T= , CM000674.2:g.32802412T= GRCh38
NC_000012.11:g.32955346T= , CM000674.1:g.32955346T= GRCh37
NC_000012.10:g.32846613T= NCBI36
NG_009000.1:g.99435A= , LRG_398:g.99435A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.661A=
ENST00000700557.2:n.250A=
ENST00000700559.2:c.2158A= ENSP00000515065.2:p.Asn720=
ENST00000546498.2:n.845A=
ENST00000549461.2:n.659+38A=
ENST00000700555.1:c.589A= ENSP00000515062.1:p.Asn197=
ENST00000700556.1:c.629A=
ENST00000700557.1:c.169A= ENSP00000515064.1:p.Asn57=
ENST00000700558.1:n.372A=
ENST00000700559.1:c.1373A=
ENST00000700560.1:n.1373A=
ENST00000700561.1:n.1499A=
ENST00000070846.11:c.2290A= ENSP00000070846.6:p.Asn764=
ENST00000340811.9:c.2158A= MANE Select ENSP00000342800.5:p.Asn720=
ENST00000070846.10:c.2290A= ENSP00000070846.6:p.Asn764=
ENST00000340811.8:c.2158A= ENSP00000342800.4:p.Asn720=
ENST00000613243.1:c.2290A= ENSP00000478295.1:p.Asn764=
NM_001005242.2:c.2158A= NP_001005242.2:p.Asn720=
NM_004572.3:c.2290A= , LRG_398t1:c.2290A= NP_004563.2:p.Asn764=
NM_001005242.3:c.2158A= MANE Select NP_001005242.2:p.Asn720=
NM_004572.4:c.2290A= NP_004563.2:p.Asn764=