Canonical Allele Identifier: CA2026397070
Community Standard Title: NM_001005242.3(PKP2):c.1712C= (p.Ser571=)
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32822594G= , CM000674.2:g.32822594G= GRCh38
NC_000012.11:g.32975528G= , CM000674.1:g.32975528G= GRCh37
NC_000012.10:g.32866795G= NCBI36
NG_009000.1:g.79253C= , LRG_398:g.79253C=

Transcript Alleles

HGVS Amino-acid Change
NM_001005242.3:c.1712C= MANE Select NP_001005242.2:p.Ser571=
ENST00000340811.9:c.1712C= MANE Select ENSP00000342800.5:p.Ser571=
NM_001005242.2:c.1712C= NP_001005242.2:p.Ser571=
NM_004572.3:c.1844C= , LRG_398t1:c.1844C= NP_004563.2:p.Ser615=
NM_004572.4:c.1844C= NP_004563.2:p.Ser615=
ENST00000070846.10:c.1844C= ENSP00000070846.6:p.Ser615=
ENST00000070846.11:c.1844C= ENSP00000070846.6:p.Ser615=
ENST00000340811.8:c.1712C= ENSP00000342800.4:p.Ser571=
ENST00000546498.1:n.399C=
ENST00000546498.2:n.399C=
ENST00000552612.5:n.133C=
ENST00000613243.1:c.1844C= ENSP00000478295.1:p.Ser615=
ENST00000700555.1:c.152C= ENSP00000515062.1:p.Ser51=
ENST00000700555.2:n.224C=
ENST00000700556.1:c.183C=
ENST00000700559.1:c.927C=
ENST00000700559.2:c.1712C= ENSP00000515065.2:p.Ser571=
ENST00000700560.1:n.927C=
ENST00000700561.1:n.1053C=
ENST00000700563.1:c.1666C=
ENST00000700563.2:c.1712C= ENSP00000515066.2:p.Ser571=
ENST00000700564.1:n.1716C=