Canonical Allele Identifier: CA235255226

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1473062
• ClinVar RCV Id: RCV001969447
• dbSNP Id: rs1036553117
• MyVariant Identifiers: chr12:g.33003705A>T (hg19) ; chr12:g.32850771A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850771A>T , CM000674.2:g.32850771A>T	GRCh38
NC_000012.11:g.33003705A>T , CM000674.1:g.33003705A>T	GRCh37
NC_000012.10:g.32894972A>T	NCBI36
NG_009000.1:g.51076T>A , LRG_398:g.51076T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1373T>A	ENSP00000515065.2:p.Ile458Lys
ENST00000700563.2:c.1373T>A	ENSP00000515066.2:p.Ile458Lys
ENST00000700559.1:c.588T>A
ENST00000700560.1:n.588T>A
ENST00000700561.1:n.714T>A
ENST00000700563.1:c.1327T>A
ENST00000700564.1:n.1377T>A
ENST00000700565.1:n.1226T>A
ENST00000070846.11:c.1373T>A	ENSP00000070846.6:p.Ile458Lys
ENST00000340811.9:c.1373T>A MANE Select	ENSP00000342800.5:p.Ile458Lys
ENST00000070846.10:c.1373T>A	ENSP00000070846.6:p.Ile458Lys
ENST00000340811.8:c.1373T>A	ENSP00000342800.4:p.Ile458Lys
ENST00000613243.1:c.1373T>A	ENSP00000478295.1:p.Ile458Lys
NM_001005242.2:c.1373T>A	NP_001005242.2:p.Ile458Lys
NM_004572.3:c.1373T>A , LRG_398t1:c.1373T>A	NP_004563.2:p.Ile458Lys
NM_001005242.3:c.1373T>A MANE Select	NP_001005242.2:p.Ile458Lys
NM_004572.4:c.1373T>A	NP_004563.2:p.Ile458Lys