Canonical Allele Identifier: CA011329

Gene: PKP2

Linked Data

• ClinVar Variation Id: 45040
• ClinVar RCV Id: RCV000038179 ; RCV000232257 ; RCV000776088 ; RCV003891482 ; RCV001529943
• dbSNP Id: rs200009796
• ExAC: 12:32977103 G / GA
• gnomAD v2: 12-32977103-G-GA
• gnomAD v3: 12-32824169-G-GA
• gnomAD v4: 12-32824169-G-GA
• COSMIC: COSM327975 ; COSM5492936
• MyVariant Identifiers: chr12:g.32977104dupA (hg19) ; chr12:g.32977110delinsAC (hg19) ; chr12:g.32977103_32977104insA (hg19) ; chr12:g.32824170dupA (hg38) ; chr12:g.32824169_32824170insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824175dup , CM000674.2:g.32824175dup	GRCh38
NC_000012.11:g.32977109dup , CM000674.1:g.32977109dup	GRCh37
NC_000012.10:g.32868376dup	NCBI36
NG_009000.1:g.77677dup , LRG_398:g.77677dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.69-8dup
ENST00000700559.2:c.1557-8dup	ENSP00000515065.2:n.1557-8dup
ENST00000700563.2:c.1557-8dup	ENSP00000515066.2:n.1557-8dup
ENST00000546498.2:n.236dup
ENST00000700555.1:c.-4-8dup	ENSP00000515062.1:n.-4-8dup
ENST00000700556.1:c.28-8dup
ENST00000700559.1:c.772-8dup
ENST00000700560.1:n.772-8dup
ENST00000700561.1:n.898-8dup
ENST00000700563.1:c.1511-8dup
ENST00000700564.1:n.1561-8dup
ENST00000070846.11:c.1689-8dup	ENSP00000070846.6:n.1689-8dup
ENST00000340811.9:c.1557-8dup MANE Select	ENSP00000342800.5:n.1557-8dup
ENST00000070846.10:c.1689-8dup	ENSP00000070846.6:n.1689-8dup
ENST00000340811.8:c.1557-8dup	ENSP00000342800.4:n.1557-8dup
ENST00000546498.1:n.236dup
ENST00000613243.1:c.1689-8dup	ENSP00000478295.1:n.1689-8dup
NM_001005242.2:c.1557-8dup	NP_001005242.2:n.1557-8dup
NM_004572.3:c.1689-8dup , LRG_398t1:c.1689-8dup	NP_004563.2:n.1689-8dup
NM_001005242.3:c.1557-8dup MANE Select	NP_001005242.2:n.1557-8dup
NM_004572.4:c.1689-8dup	NP_004563.2:n.1689-8dup