Canonical Allele Identifier: CA012005

Gene: PKP2

Linked Data

• ClinVar Variation Id: 202009
• ClinVar RCV Id: RCV000183779
• dbSNP Id: rs794729119
• MyVariant Identifiers: chr12:g.33031950del (hg19) ; chr12:g.32879016del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32879017del , CM000674.2:g.32879017del	GRCh38
NC_000012.11:g.33031951del , CM000674.1:g.33031951del	GRCh37
NC_000012.10:g.32923218del	NCBI36
NG_009000.1:g.22831del , LRG_398:g.22831del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.240del	ENSP00000515065.2:p.Ser81AlafsTer?
ENST00000700563.2:c.240del	ENSP00000515066.2:p.Ser81AlafsTer?
ENST00000700563.1:c.194del
ENST00000700564.1:n.244del
ENST00000700565.1:n.93del
ENST00000070846.11:c.240del	ENSP00000070846.6:p.Ser81AlafsTer?
ENST00000340811.9:c.240del MANE Select	ENSP00000342800.5:p.Ser81AlafsTer?
ENST00000070846.10:c.240del	ENSP00000070846.6:p.Ser81AlafsTer?
ENST00000340811.8:c.240del	ENSP00000342800.4:p.Ser81AlafsTer?
ENST00000613243.1:c.240del	ENSP00000478295.1:p.Ser81AlafsTer?
NM_001005242.2:c.240del	NP_001005242.2:p.Ser81AlafsTer?
NM_004572.3:c.240del , LRG_398t1:c.240del	NP_004563.2:p.Ser81AlafsTer?
NM_001005242.3:c.240del MANE Select	NP_001005242.2:p.Ser81AlafsTer?
NM_004572.4:c.240del	NP_004563.2:p.Ser81AlafsTer?