Canonical Allele Identifier: CA1139769802
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32878941dup , CM000674.2:g.32878941dup GRCh38
NC_000012.11:g.33031875dup , CM000674.1:g.33031875dup GRCh37
NC_000012.10:g.32923142dup NCBI36
NG_009000.1:g.22906dup , LRG_398:g.22906dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.315dup ENSP00000515065.2:p.Lys106Ter
ENST00000700563.2:c.315dup ENSP00000515066.2:p.Lys106Ter
ENST00000700563.1:c.269dup
ENST00000700564.1:n.319dup
ENST00000700565.1:n.168dup
ENST00000070846.11:c.315dup ENSP00000070846.6:p.Lys106Ter
ENST00000340811.9:c.315dup MANE Select ENSP00000342800.5:p.Lys106Ter
ENST00000070846.10:c.315dup ENSP00000070846.6:p.Lys106Ter
ENST00000340811.8:c.315dup ENSP00000342800.4:p.Lys106Ter
ENST00000613243.1:c.315dup ENSP00000478295.1:p.Lys106Ter
NM_001005242.2:c.315dup NP_001005242.2:p.Lys106Ter
NM_004572.3:c.315dup , LRG_398t1:c.315dup NP_004563.2:p.Lys106Ter
NM_001005242.3:c.315dup MANE Select NP_001005242.2:p.Lys106Ter
NM_004572.4:c.315dup NP_004563.2:p.Lys106Ter