Canonical Allele Identifier: CA384357922

Gene: PKP2

Linked Data

• ClinVar Variation Id: 265835
• ClinVar RCV Id: RCV000491274
• dbSNP Id: rs1114167346
• gnomAD v3: 12-32796272-A-G
• gnomAD v4: 12-32796272-A-G
• MyVariant Identifiers: chr12:g.32949206A>G (hg19) ; chr12:g.32796272A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796272A>G , CM000674.2:g.32796272A>G	GRCh38
NC_000012.11:g.32949206A>G , CM000674.1:g.32949206A>G	GRCh37
NC_000012.10:g.32840473A>G	NCBI36
NG_009000.1:g.105575T>C , LRG_398:g.105575T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.697T>C
ENST00000700557.2:n.286T>C
ENST00000700559.2:c.2168-3541T>C	ENSP00000515065.2:n.2168-3541T>C
ENST00000546498.2:n.881T>C
ENST00000549461.2:n.686T>C
ENST00000700555.1:c.625T>C	ENSP00000515062.1:p.Ser209Pro
ENST00000700556.1:c.665T>C
ENST00000700557.1:c.205T>C	ENSP00000515064.1:p.Ser69Pro
ENST00000700558.1:n.408T>C
ENST00000700559.1:c.1383-3541T>C
ENST00000700560.1:n.1409T>C
ENST00000700561.1:n.1535T>C
ENST00000070846.11:c.2326T>C	ENSP00000070846.6:p.Ser776Pro
ENST00000340811.9:c.2194T>C MANE Select	ENSP00000342800.5:p.Ser732Pro
ENST00000070846.10:c.2326T>C	ENSP00000070846.6:p.Ser776Pro
ENST00000340811.8:c.2194T>C	ENSP00000342800.4:p.Ser732Pro
ENST00000613243.1:c.2326T>C	ENSP00000478295.1:p.Ser776Pro
NM_001005242.2:c.2194T>C	NP_001005242.2:p.Ser732Pro
NM_004572.3:c.2326T>C , LRG_398t1:c.2326T>C	NP_004563.2:p.Ser776Pro
NM_001005242.3:c.2194T>C MANE Select	NP_001005242.2:p.Ser732Pro
NM_004572.4:c.2326T>C	NP_004563.2:p.Ser776Pro