Canonical Allele Identifier: CA2026373109
Community Standard Title: NM_001005242.3(PKP2):c.1556+1G=
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32841027C= , CM000674.2:g.32841027C= GRCh38
NC_000012.11:g.32993961C= , CM000674.1:g.32993961C= GRCh37
NC_000012.10:g.32885228C= NCBI36
NG_009000.1:g.60820G= , LRG_398:g.60820G=

Transcript Alleles

HGVS Amino-acid Change
NM_001005242.3:c.1556+1G= MANE Select NP_001005242.2:n.1556+1G=
ENST00000340811.9:c.1556+1G= MANE Select ENSP00000342800.5:n.1556+1G=
NM_001005242.2:c.1556+1G= NP_001005242.2:n.1556+1G=
NM_004572.3:c.1688+1G= , LRG_398t1:c.1688+1G= NP_004563.2:n.1688+1G=
NM_004572.4:c.1688+1G= NP_004563.2:n.1688+1G=
ENST00000070846.10:c.1688+1G= ENSP00000070846.6:n.1688+1G=
ENST00000070846.11:c.1688+1G= ENSP00000070846.6:n.1688+1G=
ENST00000340811.8:c.1556+1G= ENSP00000342800.4:n.1556+1G=
ENST00000613243.1:c.1688+1G= ENSP00000478295.1:n.1688+1G=
ENST00000700556.1:c.27+1G=
ENST00000700559.1:c.771+1G=
ENST00000700559.2:c.1556+1G= ENSP00000515065.2:n.1556+1G=
ENST00000700560.1:n.771+1G=
ENST00000700561.1:n.897+1G=
ENST00000700563.1:c.1510+1G=
ENST00000700563.2:c.1556+1G= ENSP00000515066.2:n.1556+1G=
ENST00000700564.1:n.1560+1G=
ENST00000700565.1:n.1410G=