Canonical Allele Identifier: CA034287

Gene: PKP2

Linked Data

• ClinVar Variation Id: 308504
• ClinVar RCV Id: RCV000380998
• dbSNP Id: rs371003054
• ExAC: 12:32945336 C / T
• gnomAD v2: 12-32945336-C-T
• gnomAD v3: 12-32792402-C-T
• gnomAD v4: 12-32792402-C-T
• MyVariant Identifiers: chr12:g.32945336C>T (hg19) ; chr12:g.32792402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792402C>T , CM000674.2:g.32792402C>T	GRCh38
NC_000012.11:g.32945336C>T , CM000674.1:g.32945336C>T	GRCh37
NC_000012.10:g.32836603C>T	NCBI36
NG_009000.1:g.109445G>A , LRG_398:g.109445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.1039G>A
ENST00000700557.2:n.628G>A
ENST00000700559.2:c.2346G>A	ENSP00000515065.2:p.Ser782=
ENST00000546498.2:n.1223G>A
ENST00000549461.2:n.1028G>A
ENST00000700555.1:c.*22G>A	ENSP00000515062.1:n.*22G>A
ENST00000700556.1:c.1007G>A
ENST00000700557.1:c.*22G>A	ENSP00000515064.1:n.*22G>A
ENST00000700558.1:n.750G>A
ENST00000700559.1:c.1561G>A
ENST00000700560.1:n.1902G>A
ENST00000070846.11:c.*22G>A	ENSP00000070846.6:n.*22G>A
ENST00000340811.9:c.*22G>A MANE Select	ENSP00000342800.5:n.*22G>A
ENST00000070846.10:c.*22G>A	ENSP00000070846.6:n.*22G>A
ENST00000340811.8:c.*22G>A	ENSP00000342800.4:n.*22G>A
ENST00000546769.1:n.323G>A
NM_001005242.2:c.*22G>A	NP_001005242.2:n.*22G>A
NM_004572.3:c.*22G>A , LRG_398t1:c.*22G>A	NP_004563.2:n.*22G>A
NM_001005242.3:c.*22G>A MANE Select	NP_001005242.2:n.*22G>A
NM_004572.4:c.*22G>A	NP_004563.2:n.*22G>A