Canonical Allele Identifier: CA6508302

Gene: PKP2

Linked Data

• dbSNP Id: rs751013966
• ExAC: 12:33022040 C / CATTCGATTGAATTATACCATATA
• gnomAD v2: 12-33022040-C-CATTCGATTGAATTATACCATATA
• gnomAD v4: 12-32869106-C-CATTCGATTGAATTATACCATATA
• MyVariant Identifiers: chr12:g.33022040_33022041insATTCGATTGAATTATACCATATA (hg19) ; chr12:g.32869106_32869107insATTCGATTGAATTATACCATATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32869106_32869107insATTCGATTGAATTATACCATATA , CM000674.2:g.32869106_32869107insATTCGATTGAATTATACCATATA	GRCh38
NC_000012.11:g.33022040_33022041insATTCGATTGAATTATACCATATA , CM000674.1:g.33022040_33022041insATTCGATTGAATTATACCATATA	GRCh37
NC_000012.10:g.32913307_32913308insATTCGATTGAATTATACCATATA	NCBI36
NG_009000.1:g.32740_32741insTATATGGTATAATTCAATCGAAT , LRG_398:g.32740_32741insTATATGGTATAATTCAATCGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1035-45_1035-44insTATATGGTATAATTCAATCGAAT	ENSP00000515065.2:n.1035-45_1035-44insTATATGGTATAATTCAATCGAAT...
ENST00000700563.2:c.1035-45_1035-44insTATATGGTATAATTCAATCGAAT	ENSP00000515066.2:n.1035-45_1035-44insTATATGGTATAATTCAATCGAAT...
ENST00000700559.1:c.250-45_250-44insTATATGGTATAATTCAATCGAAT
ENST00000700560.1:n.250-45_250-44insTATATGGTATAATTCAATCGAAT
ENST00000700561.1:n.376-45_376-44insTATATGGTATAATTCAATCGAAT
ENST00000700563.1:c.989-45_989-44insTATATGGTATAATTCAATCGAAT
ENST00000700564.1:n.1039-45_1039-44insTATATGGTATAATTCAATCGAAT
ENST00000700565.1:n.888-45_888-44insTATATGGTATAATTCAATCGAAT
ENST00000070846.11:c.1035-45_1035-44insTATATGGTATAATTCAATCGAAT	ENSP00000070846.6:n.1035-45_1035-44insTATATGGTATAATTCAATCGAAT...
ENST00000340811.9:c.1035-45_1035-44insTATATGGTATAATTCAATCGAAT MANE Select	ENSP00000342800.5:n.1035-45_1035-44insTATATGGTATAATTCAATCGAAT...
ENST00000070846.10:c.1035-45_1035-44insTATATGGTATAATTCAATCGAAT	ENSP00000070846.6:n.1035-45_1035-44insTATATGGTATAATTCAATCGAAT...
ENST00000340811.8:c.1035-45_1035-44insTATATGGTATAATTCAATCGAAT	ENSP00000342800.4:n.1035-45_1035-44insTATATGGTATAATTCAATCGAAT...
ENST00000613243.1:c.1035-45_1035-44insTATATGGTATAATTCAATCGAAT	ENSP00000478295.1:n.1035-45_1035-44insTATATGGTATAATTCAATCGAAT...
NM_001005242.2:c.1035-45_1035-44insTATATGGTATAATTCAATCGAAT	NP_001005242.2:n.1035-45_1035-44insTATATGGTATAATTCAATCGAAT
NM_004572.3:c.1035-45_1035-44insTATATGGTATAATTCAATCGAAT , LRG_398t1:c.1035-45_1035-44insTATATGGTATAATTCAATCGAAT	NP_004563.2:n.1035-45_1035-44insTATATGGTATAATTCAATCGAAT
NM_001005242.3:c.1035-45_1035-44insTATATGGTATAATTCAATCGAAT MANE Select	NP_001005242.2:n.1035-45_1035-44insTATATGGTATAATTCAATCGAAT
NM_004572.4:c.1035-45_1035-44insTATATGGTATAATTCAATCGAAT	NP_004563.2:n.1035-45_1035-44insTATATGGTATAATTCAATCGAAT