Canonical Allele Identifier: CA235249277

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1266688
• ClinVar RCV Id: RCV001670357
• dbSNP Id: rs143525894
• gnomAD v2: 12-32994260-T-TG
• gnomAD v3: 12-32841326-T-TG
• gnomAD v4: 12-32841326-T-TG
• COSMIC: COSN18747187 ; COSN18747198
• MyVariant Identifiers: chr12:g.32994260_32994261insG (hg19) ; chr12:g.32841326_32841327insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841332dup , CM000674.2:g.32841332dup	GRCh38
NC_000012.11:g.32994266dup , CM000674.1:g.32994266dup	GRCh37
NC_000012.10:g.32885533dup	NCBI36
NG_009000.1:g.60520dup , LRG_398:g.60520dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1379-122dup	ENSP00000515065.2:n.1379-122dup
ENST00000700563.2:c.1379-122dup	ENSP00000515066.2:n.1379-122dup
ENST00000700559.1:c.594-122dup
ENST00000700560.1:n.594-122dup
ENST00000700561.1:n.720-122dup
ENST00000700563.1:c.1333-122dup
ENST00000700564.1:n.1383-122dup
ENST00000700565.1:n.1232-122dup
ENST00000070846.11:c.1511-122dup	ENSP00000070846.6:n.1511-122dup
ENST00000340811.9:c.1379-122dup MANE Select	ENSP00000342800.5:n.1379-122dup
ENST00000070846.10:c.1511-122dup	ENSP00000070846.6:n.1511-122dup
ENST00000340811.8:c.1379-122dup	ENSP00000342800.4:n.1379-122dup
ENST00000613243.1:c.1511-122dup	ENSP00000478295.1:n.1511-122dup
NM_001005242.2:c.1379-122dup	NP_001005242.2:n.1379-122dup
NM_004572.3:c.1511-122dup , LRG_398t1:c.1511-122dup	NP_004563.2:n.1511-122dup
NM_001005242.3:c.1379-122dup MANE Select	NP_001005242.2:n.1379-122dup
NM_004572.4:c.1511-122dup	NP_004563.2:n.1511-122dup