Canonical Allele Identifier: CA10588548

Gene: PKP2

Linked Data

• ClinVar Variation Id: 265516
• ClinVar RCV Id: RCV000254703
• dbSNP Id: rs143397927
• MyVariant Identifiers: chr12:g.33003786A>T (hg19) ; chr12:g.32850852A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850852A>T , CM000674.2:g.32850852A>T	GRCh38
NC_000012.11:g.33003786A>T , CM000674.1:g.33003786A>T	GRCh37
NC_000012.10:g.32895053A>T	NCBI36
NG_009000.1:g.50995T>A , LRG_398:g.50995T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1292T>A	ENSP00000515065.2:p.Leu431Ter
ENST00000700563.2:c.1292T>A	ENSP00000515066.2:p.Leu431Ter
ENST00000700559.1:c.507T>A
ENST00000700560.1:n.507T>A
ENST00000700561.1:n.633T>A
ENST00000700563.1:c.1246T>A
ENST00000700564.1:n.1296T>A
ENST00000700565.1:n.1145T>A
ENST00000070846.11:c.1292T>A	ENSP00000070846.6:p.Leu431Ter
ENST00000340811.9:c.1292T>A MANE Select	ENSP00000342800.5:p.Leu431Ter
ENST00000070846.10:c.1292T>A	ENSP00000070846.6:p.Leu431Ter
ENST00000340811.8:c.1292T>A	ENSP00000342800.4:p.Leu431Ter
ENST00000613243.1:c.1292T>A	ENSP00000478295.1:p.Leu431Ter
NM_001005242.2:c.1292T>A	NP_001005242.2:p.Leu431Ter
NM_004572.3:c.1292T>A , LRG_398t1:c.1292T>A	NP_004563.2:p.Leu431Ter
NM_001005242.3:c.1292T>A MANE Select	NP_001005242.2:p.Leu431Ter
NM_004572.4:c.1292T>A	NP_004563.2:p.Leu431Ter