Canonical Allele Identifier: CA384367282

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1506240
• ClinVar RCV Id: RCV002006583
• dbSNP Id: rs2137829917
• gnomAD v4: 12-32841046-T-C
• MyVariant Identifiers: chr12:g.32993980T>C (hg19) ; chr12:g.32841046T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841046T>C , CM000674.2:g.32841046T>C	GRCh38
NC_000012.11:g.32993980T>C , CM000674.1:g.32993980T>C	GRCh37
NC_000012.10:g.32885247T>C	NCBI36
NG_009000.1:g.60801A>G , LRG_398:g.60801A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1538A>G	ENSP00000515065.2:p.Asn513Ser
ENST00000700563.2:c.1538A>G	ENSP00000515066.2:p.Asn513Ser
ENST00000700556.1:c.9A>G
ENST00000700559.1:c.753A>G
ENST00000700560.1:n.753A>G
ENST00000700561.1:n.879A>G
ENST00000700563.1:c.1492A>G
ENST00000700564.1:n.1542A>G
ENST00000700565.1:n.1391A>G
ENST00000070846.11:c.1670A>G	ENSP00000070846.6:p.Asn557Ser
ENST00000340811.9:c.1538A>G MANE Select	ENSP00000342800.5:p.Asn513Ser
ENST00000070846.10:c.1670A>G	ENSP00000070846.6:p.Asn557Ser
ENST00000340811.8:c.1538A>G	ENSP00000342800.4:p.Asn513Ser
ENST00000613243.1:c.1670A>G	ENSP00000478295.1:p.Asn557Ser
NM_001005242.2:c.1538A>G	NP_001005242.2:p.Asn513Ser
NM_004572.3:c.1670A>G , LRG_398t1:c.1670A>G	NP_004563.2:p.Asn557Ser
NM_001005242.3:c.1538A>G MANE Select	NP_001005242.2:p.Asn513Ser
NM_004572.4:c.1670A>G	NP_004563.2:p.Asn557Ser