Canonical Allele Identifier: CA2026389668
Community Standard Title: NM_001005242.3(PKP2):c.1237C= (p.Arg413=)
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32850907G= , CM000674.2:g.32850907G= GRCh38
NC_000012.11:g.33003841G= , CM000674.1:g.33003841G= GRCh37
NC_000012.10:g.32895108G= NCBI36
NG_009000.1:g.50940C= , LRG_398:g.50940C=

Transcript Alleles

HGVS Amino-acid Change
NM_001005242.3:c.1237C= MANE Select NP_001005242.2:p.Arg413=
ENST00000340811.9:c.1237C= MANE Select ENSP00000342800.5:p.Arg413=
NM_001005242.2:c.1237C= NP_001005242.2:p.Arg413=
NM_004572.3:c.1237C= , LRG_398t1:c.1237C= NP_004563.2:p.Arg413=
NM_004572.4:c.1237C= NP_004563.2:p.Arg413=
ENST00000070846.10:c.1237C= ENSP00000070846.6:p.Arg413=
ENST00000070846.11:c.1237C= ENSP00000070846.6:p.Arg413=
ENST00000340811.8:c.1237C= ENSP00000342800.4:p.Arg413=
ENST00000613243.1:c.1237C= ENSP00000478295.1:p.Arg413=
ENST00000700559.1:c.452C=
ENST00000700559.2:c.1237C= ENSP00000515065.2:p.Arg413=
ENST00000700560.1:n.452C=
ENST00000700561.1:n.578C=
ENST00000700563.1:c.1191C=
ENST00000700563.2:c.1237C= ENSP00000515066.2:p.Arg413=
ENST00000700564.1:n.1241C=
ENST00000700565.1:n.1090C=