Canonical Allele Identifier: CA2026342950
Gene: PKP2 HGNC NCBI

Linked Data

dbSNP Id: rs1956875648

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32869070A>G , CM000674.2:g.32869070A>G GRCh38
NC_000012.11:g.33022004A>G , CM000674.1:g.33022004A>G GRCh37
NC_000012.10:g.32913271A>G NCBI36
NG_009000.1:g.32777T>C , LRG_398:g.32777T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700559.2:c.1035-8T>C ENSP00000515065.2:n.1035-8T>C
ENST00000700563.2:c.1035-8T>C ENSP00000515066.2:n.1035-8T>C
ENST00000700559.1:c.250-8T>C
ENST00000700560.1:n.250-8T>C
ENST00000700561.1:n.376-8T>C
ENST00000700563.1:c.989-8T>C
ENST00000700564.1:n.1039-8T>C
ENST00000700565.1:n.888-8T>C
ENST00000070846.11:c.1035-8T>C ENSP00000070846.6:n.1035-8T>C
ENST00000340811.9:c.1035-8T>C MANE Select ENSP00000342800.5:n.1035-8T>C
ENST00000070846.10:c.1035-8T>C ENSP00000070846.6:n.1035-8T>C
ENST00000340811.8:c.1035-8T>C ENSP00000342800.4:n.1035-8T>C
ENST00000613243.1:c.1035-8T>C ENSP00000478295.1:n.1035-8T>C
NM_001005242.2:c.1035-8T>C NP_001005242.2:n.1035-8T>C
NM_004572.3:c.1035-8T>C , LRG_398t1:c.1035-8T>C NP_004563.2:n.1035-8T>C
NM_001005242.3:c.1035-8T>C MANE Select NP_001005242.2:n.1035-8T>C
NM_004572.4:c.1035-8T>C NP_004563.2:n.1035-8T>C