Canonical Allele Identifier: CA384368146

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1714593
• ClinVar RCV Id: RCV002299009
• MyVariant Identifiers: chr12:g.32994128T>G (hg19) ; chr12:g.32841194T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841194T>G , CM000674.2:g.32841194T>G	GRCh38
NC_000012.11:g.32994128T>G , CM000674.1:g.32994128T>G	GRCh37
NC_000012.10:g.32885395T>G	NCBI36
NG_009000.1:g.60653A>C , LRG_398:g.60653A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1390A>C	ENSP00000515065.2:p.Asn464His
ENST00000700563.2:c.1390A>C	ENSP00000515066.2:p.Asn464His
ENST00000700559.1:c.605A>C
ENST00000700560.1:n.605A>C
ENST00000700561.1:n.731A>C
ENST00000700563.1:c.1344A>C
ENST00000700564.1:n.1394A>C
ENST00000700565.1:n.1243A>C
ENST00000070846.11:c.1522A>C	ENSP00000070846.6:p.Asn508His
ENST00000340811.9:c.1390A>C MANE Select	ENSP00000342800.5:p.Asn464His
ENST00000070846.10:c.1522A>C	ENSP00000070846.6:p.Asn508His
ENST00000340811.8:c.1390A>C	ENSP00000342800.4:p.Asn464His
ENST00000613243.1:c.1522A>C	ENSP00000478295.1:p.Asn508His
NM_001005242.2:c.1390A>C	NP_001005242.2:p.Asn464His
NM_004572.3:c.1522A>C , LRG_398t1:c.1522A>C	NP_004563.2:p.Asn508His
NM_001005242.3:c.1390A>C MANE Select	NP_001005242.2:p.Asn464His
NM_004572.4:c.1522A>C	NP_004563.2:p.Asn508His