Canonical Allele Identifier: CA479174942
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1602135
ClinVar RCV Id: RCV002129876
dbSNP Id: rs1285494956

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32878929G>A , CM000674.2:g.32878929G>A GRCh38
NC_000012.11:g.33031863G>A , CM000674.1:g.33031863G>A GRCh37
NC_000012.10:g.32923130G>A NCBI36
NG_009000.1:g.22918C>T , LRG_398:g.22918C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.327C>T ENSP00000515065.2:p.Asp109=
ENST00000700563.2:c.327C>T ENSP00000515066.2:p.Asp109=
ENST00000700563.1:c.281C>T
ENST00000700564.1:n.331C>T
ENST00000700565.1:n.180C>T
ENST00000070846.11:c.327C>T ENSP00000070846.6:p.Asp109=
ENST00000340811.9:c.327C>T MANE Select ENSP00000342800.5:p.Asp109=
ENST00000070846.10:c.327C>T ENSP00000070846.6:p.Asp109=
ENST00000340811.8:c.327C>T ENSP00000342800.4:p.Asp109=
ENST00000613243.1:c.327C>T ENSP00000478295.1:p.Asp109=
NM_001005242.2:c.327C>T NP_001005242.2:p.Asp109=
NM_004572.3:c.327C>T , LRG_398t1:c.327C>T NP_004563.2:p.Asp109=
NM_001005242.3:c.327C>T MANE Select NP_001005242.2:p.Asp109=
NM_004572.4:c.327C>T NP_004563.2:p.Asp109=