Canonical Allele Identifier: CA384357615

Gene: PKP2

Linked Data

• ClinVar Variation Id: 946431
• ClinVar RCV Id: RCV001217296
• dbSNP Id: rs1956119815
• MyVariant Identifiers: chr12:g.32949082C>T (hg19) ; chr12:g.32796148C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796148C>T , CM000674.2:g.32796148C>T	GRCh38
NC_000012.11:g.32949082C>T , CM000674.1:g.32949082C>T	GRCh37
NC_000012.10:g.32840349C>T	NCBI36
NG_009000.1:g.105699G>A , LRG_398:g.105699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.821G>A
ENST00000700557.2:n.410G>A
ENST00000700559.2:c.2168-3417G>A	ENSP00000515065.2:n.2168-3417G>A
ENST00000546498.2:n.1005G>A
ENST00000549461.2:n.810G>A
ENST00000700555.1:c.749G>A	ENSP00000515062.1:p.Gly250Glu
ENST00000700556.1:c.789G>A
ENST00000700557.1:c.329G>A	ENSP00000515064.1:p.Gly110Glu
ENST00000700558.1:n.532G>A
ENST00000700559.1:c.1383-3417G>A
ENST00000700560.1:n.1533G>A
ENST00000700561.1:n.1659G>A
ENST00000070846.11:c.2450G>A	ENSP00000070846.6:p.Gly817Glu
ENST00000340811.9:c.2318G>A MANE Select	ENSP00000342800.5:p.Gly773Glu
ENST00000070846.10:c.2450G>A	ENSP00000070846.6:p.Gly817Glu
ENST00000340811.8:c.2318G>A	ENSP00000342800.4:p.Gly773Glu
ENST00000613243.1:c.2448G>A	ENSP00000478295.1:p.Arg816=
NM_001005242.2:c.2318G>A	NP_001005242.2:p.Gly773Glu
NM_004572.3:c.2450G>A , LRG_398t1:c.2450G>A	NP_004563.2:p.Gly817Glu
NM_001005242.3:c.2318G>A MANE Select	NP_001005242.2:p.Gly773Glu
NM_004572.4:c.2450G>A	NP_004563.2:p.Gly817Glu