Canonical Allele Identifier: CA034035

Gene: PKP2

Linked Data

• ClinVar Variation Id: 565339
• ClinVar RCV Id: RCV000684877 ; RCV001756149 ; RCV001524436 ; RCV004004223
• dbSNP Id: rs767496004
• ExAC: 12:32955345 T / C
• gnomAD v2: 12-32955345-T-C
• gnomAD v3: 12-32802411-T-C
• gnomAD v4: 12-32802411-T-C
• MyVariant Identifiers: chr12:g.32955345T>C (hg19) ; chr12:g.32802411T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802411T>C , CM000674.2:g.32802411T>C	GRCh38
NC_000012.11:g.32955345T>C , CM000674.1:g.32955345T>C	GRCh37
NC_000012.10:g.32846612T>C	NCBI36
NG_009000.1:g.99436A>G , LRG_398:g.99436A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.662A>G
ENST00000700557.2:n.251A>G
ENST00000700559.2:c.2159A>G	ENSP00000515065.2:p.Asn720Ser
ENST00000546498.2:n.846A>G
ENST00000549461.2:n.659+39A>G
ENST00000700555.1:c.590A>G	ENSP00000515062.1:p.Asn197Ser
ENST00000700556.1:c.630A>G
ENST00000700557.1:c.170A>G	ENSP00000515064.1:p.Asn57Ser
ENST00000700558.1:n.373A>G
ENST00000700559.1:c.1374A>G
ENST00000700560.1:n.1374A>G
ENST00000700561.1:n.1500A>G
ENST00000070846.11:c.2291A>G	ENSP00000070846.6:p.Asn764Ser
ENST00000340811.9:c.2159A>G MANE Select	ENSP00000342800.5:p.Asn720Ser
ENST00000070846.10:c.2291A>G	ENSP00000070846.6:p.Asn764Ser
ENST00000340811.8:c.2159A>G	ENSP00000342800.4:p.Asn720Ser
ENST00000613243.1:c.2291A>G	ENSP00000478295.1:p.Asn764Ser
NM_001005242.2:c.2159A>G	NP_001005242.2:p.Asn720Ser
NM_004572.3:c.2291A>G , LRG_398t1:c.2291A>G	NP_004563.2:p.Asn764Ser
NM_001005242.3:c.2159A>G MANE Select	NP_001005242.2:p.Asn720Ser
NM_004572.4:c.2291A>G	NP_004563.2:p.Asn764Ser