Canonical Allele Identifier: CA384366319

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1344540
• ClinVar RCV Id: RCV001848630
• dbSNP Id: rs2137952423
• MyVariant Identifiers: chr12:g.33031853C>A (hg19) ; chr12:g.32878919C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878919C>A , CM000674.2:g.32878919C>A	GRCh38
NC_000012.11:g.33031853C>A , CM000674.1:g.33031853C>A	GRCh37
NC_000012.10:g.32923120C>A	NCBI36
NG_009000.1:g.22928G>T , LRG_398:g.22928G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.336+1G>T	ENSP00000515065.2:n.336+1G>T
ENST00000700563.2:c.336+1G>T	ENSP00000515066.2:n.336+1G>T
ENST00000700563.1:c.290+1G>T
ENST00000700564.1:n.340+1G>T
ENST00000700565.1:n.189+1G>T
ENST00000070846.11:c.336+1G>T	ENSP00000070846.6:n.336+1G>T
ENST00000340811.9:c.336+1G>T MANE Select	ENSP00000342800.5:n.336+1G>T
ENST00000070846.10:c.336+1G>T	ENSP00000070846.6:n.336+1G>T
ENST00000340811.8:c.336+1G>T	ENSP00000342800.4:n.336+1G>T
ENST00000613243.1:c.336+1G>T	ENSP00000478295.1:n.336+1G>T
NM_001005242.2:c.336+1G>T	NP_001005242.2:n.336+1G>T
NM_004572.3:c.336+1G>T , LRG_398t1:c.336+1G>T	NP_004563.2:n.336+1G>T
NM_001005242.3:c.336+1G>T MANE Select	NP_001005242.2:n.336+1G>T
NM_004572.4:c.336+1G>T	NP_004563.2:n.336+1G>T