Canonical Allele Identifier: CA036455

Gene: PKP2

Linked Data

• ClinVar Variation Id: 927429
• ClinVar RCV Id: RCV001190734 ; RCV002559180 ; RCV004010455 ; RCV004033410
• dbSNP Id: rs762825735
• ExAC: 12:33031902 A / C
• gnomAD v2: 12-33031902-A-C
• gnomAD v4: 12-32878968-A-C
• MyVariant Identifiers: chr12:g.33031902A>C (hg19) ; chr12:g.32878968A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878968A>C , CM000674.2:g.32878968A>C	GRCh38
NC_000012.11:g.33031902A>C , CM000674.1:g.33031902A>C	GRCh37
NC_000012.10:g.32923169A>C	NCBI36
NG_009000.1:g.22879T>G , LRG_398:g.22879T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.288T>G	ENSP00000515065.2:p.Asp96Glu
ENST00000700563.2:c.288T>G	ENSP00000515066.2:p.Asp96Glu
ENST00000700563.1:c.242T>G
ENST00000700564.1:n.292T>G
ENST00000700565.1:n.141T>G
ENST00000070846.11:c.288T>G	ENSP00000070846.6:p.Asp96Glu
ENST00000340811.9:c.288T>G MANE Select	ENSP00000342800.5:p.Asp96Glu
ENST00000070846.10:c.288T>G	ENSP00000070846.6:p.Asp96Glu
ENST00000340811.8:c.288T>G	ENSP00000342800.4:p.Asp96Glu
ENST00000613243.1:c.288T>G	ENSP00000478295.1:p.Asp96Glu
NM_001005242.2:c.288T>G	NP_001005242.2:p.Asp96Glu
NM_004572.3:c.288T>G , LRG_398t1:c.288T>G	NP_004563.2:p.Asp96Glu
NM_001005242.3:c.288T>G MANE Select	NP_001005242.2:p.Asp96Glu
NM_004572.4:c.288T>G	NP_004563.2:p.Asp96Glu