Canonical Allele Identifier: CA2026374148
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32841282A= , CM000674.2:g.32841282A= GRCh38
NC_000012.11:g.32994216A= , CM000674.1:g.32994216A= GRCh37
NC_000012.10:g.32885483A= NCBI36
NG_009000.1:g.60565T= , LRG_398:g.60565T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.1379-77T= ENSP00000515065.2:n.1379-77T=
ENST00000700563.2:c.1379-77T= ENSP00000515066.2:n.1379-77T=
ENST00000700559.1:c.594-77T=
ENST00000700560.1:n.594-77T=
ENST00000700561.1:n.720-77T=
ENST00000700563.1:c.1333-77T=
ENST00000700564.1:n.1383-77T=
ENST00000700565.1:n.1232-77T=
ENST00000070846.11:c.1511-77T= ENSP00000070846.6:n.1511-77T=
ENST00000340811.9:c.1379-77T= MANE Select ENSP00000342800.5:n.1379-77T=
ENST00000070846.10:c.1511-77T= ENSP00000070846.6:n.1511-77T=
ENST00000340811.8:c.1379-77T= ENSP00000342800.4:n.1379-77T=
ENST00000613243.1:c.1511-77T= ENSP00000478295.1:n.1511-77T=
NM_001005242.2:c.1379-77T= NP_001005242.2:n.1379-77T=
NM_004572.3:c.1511-77T= , LRG_398t1:c.1511-77T= NP_004563.2:n.1511-77T=
NM_001005242.3:c.1379-77T= MANE Select NP_001005242.2:n.1379-77T=
NM_004572.4:c.1511-77T= NP_004563.2:n.1511-77T=