Canonical Allele Identifier: CA036195

Gene: PKP2

Linked Data

• ClinVar Variation Id: 533047
• ClinVar RCV Id: RCV000773292 ; RCV001453377 ; RCV002424427 ; RCV003226961
• dbSNP Id: rs777477467
• ExAC: 12:32945415 C / T
• gnomAD v2: 12-32945415-C-T
• gnomAD v3: 12-32792481-C-T
• gnomAD v4: 12-32792481-C-T
• COSMIC: COSM3460231
• MyVariant Identifiers: chr12:g.32945415C>T (hg19) ; chr12:g.32792481C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792481C>T , CM000674.2:g.32792481C>T	GRCh38
NC_000012.11:g.32945415C>T , CM000674.1:g.32945415C>T	GRCh37
NC_000012.10:g.32836682C>T	NCBI36
NG_009000.1:g.109366G>A , LRG_398:g.109366G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.960G>A
ENST00000700557.2:n.549G>A
ENST00000700559.2:c.2267G>A	ENSP00000515065.2:p.Arg756Lys
ENST00000546498.2:n.1144G>A
ENST00000549461.2:n.949G>A
ENST00000700555.1:c.888G>A	ENSP00000515062.1:p.Lys296=
ENST00000700556.1:c.928G>A
ENST00000700557.1:c.468G>A	ENSP00000515064.1:p.Lys156=
ENST00000700558.1:n.671G>A
ENST00000700559.1:c.1482G>A
ENST00000700560.1:n.1823G>A
ENST00000070846.11:c.2589G>A	ENSP00000070846.6:p.Lys863=
ENST00000340811.9:c.2457G>A MANE Select	ENSP00000342800.5:p.Lys819=
ENST00000070846.10:c.2589G>A	ENSP00000070846.6:p.Lys863=
ENST00000340811.8:c.2457G>A	ENSP00000342800.4:p.Lys819=
ENST00000546769.1:n.244G>A
ENST00000613243.1:c.2587G>A	ENSP00000478295.1:n.2587G>A
NM_001005242.2:c.2457G>A	NP_001005242.2:p.Lys819=
NM_004572.3:c.2589G>A , LRG_398t1:c.2589G>A	NP_004563.2:p.Lys863=
NM_001005242.3:c.2457G>A MANE Select	NP_001005242.2:p.Lys819=
NM_004572.4:c.2589G>A	NP_004563.2:p.Lys863=