Canonical Allele Identifier: CA029956

Gene: PKP2

Linked Data

• ClinVar Variation Id: 263765
• ClinVar RCV Id: RCV000245734 ; RCV000521548 ; RCV001348150 ; RCV001183826
• dbSNP Id: rs376102257
• ExAC: 12:32993978 C / T
• gnomAD v2: 12-32993978-C-T
• gnomAD v3: 12-32841044-C-T
• gnomAD v4: 12-32841044-C-T
• MyVariant Identifiers: chr12:g.32993978C>T (hg19) ; chr12:g.32841044C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841044C>T , CM000674.2:g.32841044C>T	GRCh38
NC_000012.11:g.32993978C>T , CM000674.1:g.32993978C>T	GRCh37
NC_000012.10:g.32885245C>T	NCBI36
NG_009000.1:g.60803G>A , LRG_398:g.60803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1540G>A	ENSP00000515065.2:p.Val514Ile
ENST00000700563.2:c.1540G>A	ENSP00000515066.2:p.Val514Ile
ENST00000700556.1:c.11G>A
ENST00000700559.1:c.755G>A
ENST00000700560.1:n.755G>A
ENST00000700561.1:n.881G>A
ENST00000700563.1:c.1494G>A
ENST00000700564.1:n.1544G>A
ENST00000700565.1:n.1393G>A
ENST00000070846.11:c.1672G>A	ENSP00000070846.6:p.Val558Ile
ENST00000340811.9:c.1540G>A MANE Select	ENSP00000342800.5:p.Val514Ile
ENST00000070846.10:c.1672G>A	ENSP00000070846.6:p.Val558Ile
ENST00000340811.8:c.1540G>A	ENSP00000342800.4:p.Val514Ile
ENST00000613243.1:c.1672G>A	ENSP00000478295.1:p.Val558Ile
NM_001005242.2:c.1540G>A	NP_001005242.2:p.Val514Ile
NM_004572.3:c.1672G>A , LRG_398t1:c.1672G>A	NP_004563.2:p.Val558Ile
NM_001005242.3:c.1540G>A MANE Select	NP_001005242.2:p.Val514Ile
NM_004572.4:c.1672G>A	NP_004563.2:p.Val558Ile