Canonical Allele Identifier: CA384363296

Gene: PKP2

Linked Data

• dbSNP Id: rs2137777821
• gnomAD v3: 12-32822575-C-A
• gnomAD v4: 12-32822575-C-A
• MyVariant Identifiers: chr12:g.32975509C>A (hg19) ; chr12:g.32822575C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822575C>A , CM000674.2:g.32822575C>A	GRCh38
NC_000012.11:g.32975509C>A , CM000674.1:g.32975509C>A	GRCh37
NC_000012.10:g.32866776C>A	NCBI36
NG_009000.1:g.79272G>T , LRG_398:g.79272G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.243G>T
ENST00000700559.2:c.1731G>T	ENSP00000515065.2:p.Glu577Asp
ENST00000700563.2:c.1731G>T	ENSP00000515066.2:p.Glu577Asp
ENST00000546498.2:n.418G>T
ENST00000700555.1:c.171G>T	ENSP00000515062.1:p.Glu57Asp
ENST00000700556.1:c.202G>T
ENST00000700559.1:c.946G>T
ENST00000700560.1:n.946G>T
ENST00000700561.1:n.1072G>T
ENST00000700563.1:c.1685G>T
ENST00000700564.1:n.1735G>T
ENST00000070846.11:c.1863G>T	ENSP00000070846.6:p.Glu621Asp
ENST00000340811.9:c.1731G>T MANE Select	ENSP00000342800.5:p.Glu577Asp
ENST00000070846.10:c.1863G>T	ENSP00000070846.6:p.Glu621Asp
ENST00000340811.8:c.1731G>T	ENSP00000342800.4:p.Glu577Asp
ENST00000546498.1:n.418G>T
ENST00000552612.5:n.152G>T
ENST00000613243.1:c.1863G>T	ENSP00000478295.1:p.Glu621Asp
NM_001005242.2:c.1731G>T	NP_001005242.2:p.Glu577Asp
NM_004572.3:c.1863G>T , LRG_398t1:c.1863G>T	NP_004563.2:p.Glu621Asp
NM_001005242.3:c.1731G>T MANE Select	NP_001005242.2:p.Glu577Asp
NM_004572.4:c.1863G>T	NP_004563.2:p.Glu621Asp