Canonical Allele Identifier: CA2026390091
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32851223G= , CM000674.2:g.32851223G= GRCh38
NC_000012.11:g.33004157G= , CM000674.1:g.33004157G= GRCh37
NC_000012.10:g.32895424G= NCBI36
NG_009000.1:g.50624C= , LRG_398:g.50624C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.1171-250C= ENSP00000515065.2:n.1171-250C=
ENST00000700563.2:c.1171-250C= ENSP00000515066.2:n.1171-250C=
ENST00000700559.1:c.386-250C=
ENST00000700560.1:n.386-250C=
ENST00000700561.1:n.512-250C=
ENST00000700563.1:c.1125-250C=
ENST00000700564.1:n.1175-250C=
ENST00000700565.1:n.1024-250C=
ENST00000070846.11:c.1171-250C= ENSP00000070846.6:n.1171-250C=
ENST00000340811.9:c.1171-250C= MANE Select ENSP00000342800.5:n.1171-250C=
ENST00000070846.10:c.1171-250C= ENSP00000070846.6:n.1171-250C=
ENST00000340811.8:c.1171-250C= ENSP00000342800.4:n.1171-250C=
ENST00000613243.1:c.1171-250C= ENSP00000478295.1:n.1171-250C=
NM_001005242.2:c.1171-250C= NP_001005242.2:n.1171-250C=
NM_004572.3:c.1171-250C= , LRG_398t1:c.1171-250C= NP_004563.2:n.1171-250C=
NM_001005242.3:c.1171-250C= MANE Select NP_001005242.2:n.1171-250C=
NM_004572.4:c.1171-250C= NP_004563.2:n.1171-250C=