Canonical Allele Identifier: CA384359226

Gene: PKP2

Linked Data

• ClinVar Variation Id: 583031
• ClinVar RCV Id: RCV000707255 ; RCV002271573 ; RCV003223674
• dbSNP Id: rs1565596114
• gnomAD v3: 12-32868968-T-C
• gnomAD v4: 12-32868968-T-C
• MyVariant Identifiers: chr12:g.33021902T>C (hg19) ; chr12:g.32868968T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868968T>C , CM000674.2:g.32868968T>C	GRCh38
NC_000012.11:g.33021902T>C , CM000674.1:g.33021902T>C	GRCh37
NC_000012.10:g.32913169T>C	NCBI36
NG_009000.1:g.32879A>G , LRG_398:g.32879A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1129A>G	ENSP00000515065.2:p.Ile377Val
ENST00000700563.2:c.1129A>G	ENSP00000515066.2:p.Ile377Val
ENST00000700559.1:c.344A>G
ENST00000700560.1:n.344A>G
ENST00000700561.1:n.470A>G
ENST00000700563.1:c.1083A>G
ENST00000700564.1:n.1133A>G
ENST00000700565.1:n.982A>G
ENST00000070846.11:c.1129A>G	ENSP00000070846.6:p.Ile377Val
ENST00000340811.9:c.1129A>G MANE Select	ENSP00000342800.5:p.Ile377Val
ENST00000070846.10:c.1129A>G	ENSP00000070846.6:p.Ile377Val
ENST00000340811.8:c.1129A>G	ENSP00000342800.4:p.Ile377Val
ENST00000613243.1:c.1129A>G	ENSP00000478295.1:p.Ile377Val
NM_001005242.2:c.1129A>G	NP_001005242.2:p.Ile377Val
NM_004572.3:c.1129A>G , LRG_398t1:c.1129A>G	NP_004563.2:p.Ile377Val
NM_001005242.3:c.1129A>G MANE Select	NP_001005242.2:p.Ile377Val
NM_004572.4:c.1129A>G	NP_004563.2:p.Ile377Val