Canonical Allele Identifier: CA384360023

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1321424
• ClinVar RCV Id: RCV001779518 ; RCV001868826
• dbSNP Id: rs1325285497
• MyVariant Identifiers: chr12:g.32955460G>A (hg19) ; chr12:g.32802526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802526G>A , CM000674.2:g.32802526G>A	GRCh38
NC_000012.11:g.32955460G>A , CM000674.1:g.32955460G>A	GRCh37
NC_000012.10:g.32846727G>A	NCBI36
NG_009000.1:g.99321C>T , LRG_398:g.99321C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.547C>T
ENST00000700557.2:n.136C>T
ENST00000700559.2:c.2044C>T	ENSP00000515065.2:p.Gln682Ter
ENST00000546498.2:n.731C>T
ENST00000549461.2:n.583C>T
ENST00000700555.1:c.475C>T	ENSP00000515062.1:p.Gln159Ter
ENST00000700556.1:c.515C>T
ENST00000700557.1:c.55C>T	ENSP00000515064.1:p.Gln19Ter
ENST00000700558.1:n.258C>T
ENST00000700559.1:c.1259C>T
ENST00000700560.1:n.1259C>T
ENST00000700561.1:n.1385C>T
ENST00000070846.11:c.2176C>T	ENSP00000070846.6:p.Gln726Ter
ENST00000340811.9:c.2044C>T MANE Select	ENSP00000342800.5:p.Gln682Ter
ENST00000070846.10:c.2176C>T	ENSP00000070846.6:p.Gln726Ter
ENST00000340811.8:c.2044C>T	ENSP00000342800.4:p.Gln682Ter
ENST00000549461.1:n.490C>T
ENST00000613243.1:c.2176C>T	ENSP00000478295.1:p.Gln726Ter
NM_001005242.2:c.2044C>T	NP_001005242.2:p.Gln682Ter
NM_004572.3:c.2176C>T , LRG_398t1:c.2176C>T	NP_004563.2:p.Gln726Ter
NM_001005242.3:c.2044C>T MANE Select	NP_001005242.2:p.Gln682Ter
NM_004572.4:c.2176C>T	NP_004563.2:p.Gln726Ter