Canonical Allele Identifier: CA028190

Gene: PKP2

Linked Data

• ClinVar Variation Id: 220944
• ClinVar RCV Id: RCV000206516 ; RCV000777791 ; RCV001699236 ; RCV003955237 ; RCV001723779 ; RCV003997661 ; RCV002390552
• dbSNP Id: rs377424658
• ExAC: 12:32996207 G / A
• gnomAD v2: 12-32996207-G-A
• gnomAD v3: 12-32843273-G-A
• gnomAD v4: 12-32843273-G-A
• COSMIC: COSM4041459
• MyVariant Identifiers: chr12:g.32996207G>A (hg19) ; chr12:g.32843273G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32843273G>A , CM000674.2:g.32843273G>A	GRCh38
NC_000012.11:g.32996207G>A , CM000674.1:g.32996207G>A	GRCh37
NC_000012.10:g.32887474G>A	NCBI36
NG_009000.1:g.58574C>T , LRG_398:g.58574C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1379-2068C>T	ENSP00000515065.2:n.1379-2068C>T
ENST00000700563.2:c.1379-2068C>T	ENSP00000515066.2:n.1379-2068C>T
ENST00000700559.1:c.594-2068C>T
ENST00000700560.1:n.594-2068C>T
ENST00000700561.1:n.720-2068C>T
ENST00000700563.1:c.1333-2068C>T
ENST00000700564.1:n.1383-2068C>T
ENST00000700565.1:n.1232-2068C>T
ENST00000070846.11:c.1419C>T	ENSP00000070846.6:p.Gly473=
ENST00000340811.9:c.1379-2068C>T MANE Select	ENSP00000342800.5:n.1379-2068C>T
ENST00000070846.10:c.1419C>T	ENSP00000070846.6:p.Gly473=
ENST00000340811.8:c.1379-2068C>T	ENSP00000342800.4:n.1379-2068C>T
ENST00000613243.1:c.1419C>T	ENSP00000478295.1:p.Gly473=
NM_001005242.2:c.1379-2068C>T	NP_001005242.2:n.1379-2068C>T
NM_004572.3:c.1419C>T , LRG_398t1:c.1419C>T	NP_004563.2:p.Gly473=
NM_001005242.3:c.1379-2068C>T MANE Select	NP_001005242.2:n.1379-2068C>T
NM_004572.4:c.1419C>T	NP_004563.2:p.Gly473=