Canonical Allele Identifier: CA384366638
Gene: PKP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32879006G>T , CM000674.2:g.32879006G>T GRCh38
NC_000012.11:g.33031940G>T , CM000674.1:g.33031940G>T GRCh37
NC_000012.10:g.32923207G>T NCBI36
NG_009000.1:g.22841C>A , LRG_398:g.22841C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.250C>A ENSP00000515065.2:p.Pro84Thr
ENST00000700563.2:c.250C>A ENSP00000515066.2:p.Pro84Thr
ENST00000700563.1:c.204C>A
ENST00000700564.1:n.254C>A
ENST00000700565.1:n.103C>A
ENST00000070846.11:c.250C>A ENSP00000070846.6:p.Pro84Thr
ENST00000340811.9:c.250C>A MANE Select ENSP00000342800.5:p.Pro84Thr
ENST00000070846.10:c.250C>A ENSP00000070846.6:p.Pro84Thr
ENST00000340811.8:c.250C>A ENSP00000342800.4:p.Pro84Thr
ENST00000613243.1:c.250C>A ENSP00000478295.1:p.Pro84Thr
NM_001005242.2:c.250C>A NP_001005242.2:p.Pro84Thr
NM_004572.3:c.250C>A , LRG_398t1:c.250C>A NP_004563.2:p.Pro84Thr
NM_001005242.3:c.250C>A MANE Select NP_001005242.2:p.Pro84Thr
NM_004572.4:c.250C>A NP_004563.2:p.Pro84Thr