Canonical Allele Identifier: CA2026397108
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32822601T= , CM000674.2:g.32822601T= GRCh38
NC_000012.11:g.32975535T= , CM000674.1:g.32975535T= GRCh37
NC_000012.10:g.32866802T= NCBI36
NG_009000.1:g.79246A= , LRG_398:g.79246A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.217A=
ENST00000700559.2:c.1705A= ENSP00000515065.2:p.Asn569=
ENST00000700563.2:c.1705A= ENSP00000515066.2:p.Asn569=
ENST00000546498.2:n.392A=
ENST00000700555.1:c.145A= ENSP00000515062.1:p.Asn49=
ENST00000700556.1:c.176A=
ENST00000700559.1:c.920A=
ENST00000700560.1:n.920A=
ENST00000700561.1:n.1046A=
ENST00000700563.1:c.1659A=
ENST00000700564.1:n.1709A=
ENST00000070846.11:c.1837A= ENSP00000070846.6:p.Asn613=
ENST00000340811.9:c.1705A= MANE Select ENSP00000342800.5:p.Asn569=
ENST00000070846.10:c.1837A= ENSP00000070846.6:p.Asn613=
ENST00000340811.8:c.1705A= ENSP00000342800.4:p.Asn569=
ENST00000546498.1:n.392A=
ENST00000552612.5:n.126A=
ENST00000613243.1:c.1837A= ENSP00000478295.1:p.Asn613=
NM_001005242.2:c.1705A= NP_001005242.2:p.Asn569=
NM_004572.3:c.1837A= , LRG_398t1:c.1837A= NP_004563.2:p.Asn613=
NM_001005242.3:c.1705A= MANE Select NP_001005242.2:p.Asn569=
NM_004572.4:c.1837A= NP_004563.2:p.Asn613=