Canonical Allele Identifier: CA032566

Gene: PKP2

Linked Data

• ClinVar Variation Id: 629108
• ClinVar RCV Id: RCV001856068 ; RCV002422657
• dbSNP Id: rs776915959
• ExAC: 12:32974360 T / C
• gnomAD v2: 12-32974360-T-C
• gnomAD v3: 12-32821426-T-C
• gnomAD v4: 12-32821426-T-C
• MyVariant Identifiers: chr12:g.32974360T>C (hg19) ; chr12:g.32821426T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821426T>C , CM000674.2:g.32821426T>C	GRCh38
NC_000012.11:g.32974360T>C , CM000674.1:g.32974360T>C	GRCh37
NC_000012.10:g.32865627T>C	NCBI36
NG_009000.1:g.80421A>G , LRG_398:g.80421A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.446A>G
ENST00000700559.2:c.1943A>G	ENSP00000515065.2:p.Lys648Arg
ENST00000700563.2:c.1943A>G	ENSP00000515066.2:p.Lys648Arg
ENST00000546498.2:n.630A>G
ENST00000549461.2:n.482A>G
ENST00000700555.1:c.374A>G	ENSP00000515062.1:p.Lys125Arg
ENST00000700556.1:c.414A>G
ENST00000700558.1:n.157A>G
ENST00000700559.1:c.1158A>G
ENST00000700560.1:n.1158A>G
ENST00000700561.1:n.1284A>G
ENST00000700562.1:n.481A>G
ENST00000700563.1:c.1897A>G
ENST00000700564.1:n.1947A>G
ENST00000070846.11:c.2075A>G	ENSP00000070846.6:p.Lys692Arg
ENST00000340811.9:c.1943A>G MANE Select	ENSP00000342800.5:p.Lys648Arg
ENST00000070846.10:c.2075A>G	ENSP00000070846.6:p.Lys692Arg
ENST00000340811.8:c.1943A>G	ENSP00000342800.4:p.Lys648Arg
ENST00000549461.1:n.389A>G
ENST00000552612.5:n.364A>G
ENST00000613243.1:c.2075A>G	ENSP00000478295.1:p.Lys692Arg
NM_001005242.2:c.1943A>G	NP_001005242.2:p.Lys648Arg
NM_004572.3:c.2075A>G , LRG_398t1:c.2075A>G	NP_004563.2:p.Lys692Arg
NM_001005242.3:c.1943A>G MANE Select	NP_001005242.2:p.Lys648Arg
NM_004572.4:c.2075A>G	NP_004563.2:p.Lys692Arg