Canonical Allele Identifier: CA384368089

Gene: PKP2

Linked Data

• ClinVar Variation Id: 3224316
• ClinVar RCV Id: RCV004519042
• MyVariant Identifiers: chr12:g.32994116T>C (hg19) ; chr12:g.32841182T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841182T>C , CM000674.2:g.32841182T>C	GRCh38
NC_000012.11:g.32994116T>C , CM000674.1:g.32994116T>C	GRCh37
NC_000012.10:g.32885383T>C	NCBI36
NG_009000.1:g.60665A>G , LRG_398:g.60665A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1402A>G	ENSP00000515065.2:p.Asn468Asp
ENST00000700563.2:c.1402A>G	ENSP00000515066.2:p.Asn468Asp
ENST00000700559.1:c.617A>G
ENST00000700560.1:n.617A>G
ENST00000700561.1:n.743A>G
ENST00000700563.1:c.1356A>G
ENST00000700564.1:n.1406A>G
ENST00000700565.1:n.1255A>G
ENST00000070846.11:c.1534A>G	ENSP00000070846.6:p.Asn512Asp
ENST00000340811.9:c.1402A>G MANE Select	ENSP00000342800.5:p.Asn468Asp
ENST00000070846.10:c.1534A>G	ENSP00000070846.6:p.Asn512Asp
ENST00000340811.8:c.1402A>G	ENSP00000342800.4:p.Asn468Asp
ENST00000613243.1:c.1534A>G	ENSP00000478295.1:p.Asn512Asp
NM_001005242.2:c.1402A>G	NP_001005242.2:p.Asn468Asp
NM_004572.3:c.1534A>G , LRG_398t1:c.1534A>G	NP_004563.2:p.Asn512Asp
NM_001005242.3:c.1402A>G MANE Select	NP_001005242.2:p.Asn468Asp
NM_004572.4:c.1534A>G	NP_004563.2:p.Asn512Asp