Canonical Allele Identifier: CA012023

Gene: PKP2

Linked Data

• ClinVar Variation Id: 188663
• ClinVar RCV Id: RCV000586198
• dbSNP Id: rs786204395
• MyVariant Identifiers: chr12:g.32949084_32949089delinsTTTC (hg19) ; chr12:g.32796150_32796155delinsTTTC (hg38)
• PubMed: PMID:20152563 ; PMID:23168288 ; PMID:24070718

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796150_32796155delinsTTTC , CM000674.2:g.32796150_32796155delinsTTTC	GRCh38
NC_000012.11:g.32949084_32949089delinsTTTC , CM000674.1:g.32949084_32949089delinsTTTC	GRCh37
NC_000012.10:g.32840351_32840356delinsTTTC	NCBI36
NG_009000.1:g.105692_105697delinsGAAA , LRG_398:g.105692_105697delinsGAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.814_819delinsGAAA
ENST00000700557.2:n.403_408delinsGAAA
ENST00000700559.2:c.2168-3424_2168-3419delinsGAAA	ENSP00000515065.2:n.2168-3424_2168-3419delinsGAAA
ENST00000546498.2:n.998_1003delinsGAAA
ENST00000549461.2:n.803_808delinsGAAA
ENST00000700555.1:c.742_747delinsGAAA	ENSP00000515062.1:p.Asn248GlufsTer11
ENST00000700556.1:c.782_787delinsGAAA
ENST00000700557.1:c.322_327delinsGAAA	ENSP00000515064.1:p.Asn108GlufsTer11
ENST00000700558.1:n.525_530delinsGAAA
ENST00000700559.1:c.1383-3424_1383-3419delinsGAAA
ENST00000700560.1:n.1526_1531delinsGAAA
ENST00000700561.1:n.1652_1657delinsGAAA
ENST00000070846.11:c.2443_2448delinsGAAA	ENSP00000070846.6:p.Asn815GlufsTer11
ENST00000340811.9:c.2311_2316delinsGAAA MANE Select	ENSP00000342800.5:p.Asn771GlufsTer11
ENST00000070846.10:c.2443_2448delinsGAAA	ENSP00000070846.6:p.Asn815GlufsTer11
ENST00000340811.8:c.2311_2316delinsGAAA	ENSP00000342800.4:p.Asn771GlufsTer11
ENST00000613243.1:c.2443_2446delinsGAAA
NM_001005242.2:c.2311_2316delinsGAAA	NP_001005242.2:p.Asn771GlufsTer11
NM_004572.3:c.2443_2448delinsGAAA , LRG_398t1:c.2443_2448delinsGAAA	NP_004563.2:p.Asn815GlufsTer11
NM_001005242.3:c.2311_2316delinsGAAA MANE Select	NP_001005242.2:p.Asn771GlufsTer11
NM_004572.4:c.2443_2448delinsGAAA	NP_004563.2:p.Asn815GlufsTer11