Canonical Allele Identifier: CA384357800

Gene: PKP2

Linked Data

• dbSNP Id: rs1956121527
• gnomAD v3: 12-32796211-C-T
• gnomAD v4: 12-32796211-C-T
• COSMIC: COSM3954662
• MyVariant Identifiers: chr12:g.32949145C>T (hg19) ; chr12:g.32796211C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796211C>T , CM000674.2:g.32796211C>T	GRCh38
NC_000012.11:g.32949145C>T , CM000674.1:g.32949145C>T	GRCh37
NC_000012.10:g.32840412C>T	NCBI36
NG_009000.1:g.105636G>A , LRG_398:g.105636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.758G>A
ENST00000700557.2:n.347G>A
ENST00000700559.2:c.2168-3480G>A	ENSP00000515065.2:n.2168-3480G>A
ENST00000546498.2:n.942G>A
ENST00000549461.2:n.747G>A
ENST00000700555.1:c.686G>A	ENSP00000515062.1:p.Cys229Tyr
ENST00000700556.1:c.726G>A
ENST00000700557.1:c.266G>A	ENSP00000515064.1:p.Cys89Tyr
ENST00000700558.1:n.469G>A
ENST00000700559.1:c.1383-3480G>A
ENST00000700560.1:n.1470G>A
ENST00000700561.1:n.1596G>A
ENST00000070846.11:c.2387G>A	ENSP00000070846.6:p.Cys796Tyr
ENST00000340811.9:c.2255G>A MANE Select	ENSP00000342800.5:p.Cys752Tyr
ENST00000070846.10:c.2387G>A	ENSP00000070846.6:p.Cys796Tyr
ENST00000340811.8:c.2255G>A	ENSP00000342800.4:p.Cys752Tyr
ENST00000613243.1:c.2387G>A	ENSP00000478295.1:p.Cys796Tyr
NM_001005242.2:c.2255G>A	NP_001005242.2:p.Cys752Tyr
NM_004572.3:c.2387G>A , LRG_398t1:c.2387G>A	NP_004563.2:p.Cys796Tyr
NM_001005242.3:c.2255G>A MANE Select	NP_001005242.2:p.Cys752Tyr
NM_004572.4:c.2387G>A	NP_004563.2:p.Cys796Tyr