Canonical Allele Identifier: CA384357958

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1424538
• ClinVar RCV Id: RCV001957192 ; RCV002272532
• dbSNP Id: rs1249551566
• gnomAD v3: 12-32796290-T-A
• gnomAD v4: 12-32796290-T-A
• MyVariant Identifiers: chr12:g.32949224T>A (hg19) ; chr12:g.32796290T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796290T>A , CM000674.2:g.32796290T>A	GRCh38
NC_000012.11:g.32949224T>A , CM000674.1:g.32949224T>A	GRCh37
NC_000012.10:g.32840491T>A	NCBI36
NG_009000.1:g.105557A>T , LRG_398:g.105557A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.679A>T
ENST00000700557.2:n.268A>T
ENST00000700559.2:c.2168-3559A>T	ENSP00000515065.2:n.2168-3559A>T
ENST00000546498.2:n.863A>T
ENST00000549461.2:n.668A>T
ENST00000700555.1:c.607A>T	ENSP00000515062.1:p.Thr203Ser
ENST00000700556.1:c.647A>T
ENST00000700557.1:c.187A>T	ENSP00000515064.1:p.Thr63Ser
ENST00000700558.1:n.390A>T
ENST00000700559.1:c.1383-3559A>T
ENST00000700560.1:n.1391A>T
ENST00000700561.1:n.1517A>T
ENST00000070846.11:c.2308A>T	ENSP00000070846.6:p.Thr770Ser
ENST00000340811.9:c.2176A>T MANE Select	ENSP00000342800.5:p.Thr726Ser
ENST00000070846.10:c.2308A>T	ENSP00000070846.6:p.Thr770Ser
ENST00000340811.8:c.2176A>T	ENSP00000342800.4:p.Thr726Ser
ENST00000613243.1:c.2308A>T	ENSP00000478295.1:p.Thr770Ser
NM_001005242.2:c.2176A>T	NP_001005242.2:p.Thr726Ser
NM_004572.3:c.2308A>T , LRG_398t1:c.2308A>T	NP_004563.2:p.Thr770Ser
NM_001005242.3:c.2176A>T MANE Select	NP_001005242.2:p.Thr726Ser
NM_004572.4:c.2308A>T	NP_004563.2:p.Thr770Ser