Canonical Allele Identifier: CA384357917

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1521063
• ClinVar RCV Id: RCV002031077
• dbSNP Id: rs749907181
• gnomAD v4: 12-32796269-T-C
• MyVariant Identifiers: chr12:g.32949203T>C (hg19) ; chr12:g.32796269T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796269T>C , CM000674.2:g.32796269T>C	GRCh38
NC_000012.11:g.32949203T>C , CM000674.1:g.32949203T>C	GRCh37
NC_000012.10:g.32840470T>C	NCBI36
NG_009000.1:g.105578A>G , LRG_398:g.105578A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.700A>G
ENST00000700557.2:n.289A>G
ENST00000700559.2:c.2168-3538A>G	ENSP00000515065.2:n.2168-3538A>G
ENST00000546498.2:n.884A>G
ENST00000549461.2:n.689A>G
ENST00000700555.1:c.628A>G	ENSP00000515062.1:p.Ile210Val
ENST00000700556.1:c.668A>G
ENST00000700557.1:c.208A>G	ENSP00000515064.1:p.Ile70Val
ENST00000700558.1:n.411A>G
ENST00000700559.1:c.1383-3538A>G
ENST00000700560.1:n.1412A>G
ENST00000700561.1:n.1538A>G
ENST00000070846.11:c.2329A>G	ENSP00000070846.6:p.Ile777Val
ENST00000340811.9:c.2197A>G MANE Select	ENSP00000342800.5:p.Ile733Val
ENST00000070846.10:c.2329A>G	ENSP00000070846.6:p.Ile777Val
ENST00000340811.8:c.2197A>G	ENSP00000342800.4:p.Ile733Val
ENST00000613243.1:c.2329A>G	ENSP00000478295.1:p.Ile777Val
NM_001005242.2:c.2197A>G	NP_001005242.2:p.Ile733Val
NM_004572.3:c.2329A>G , LRG_398t1:c.2329A>G	NP_004563.2:p.Ile777Val
NM_001005242.3:c.2197A>G MANE Select	NP_001005242.2:p.Ile733Val
NM_004572.4:c.2329A>G	NP_004563.2:p.Ile777Val