Canonical Allele Identifier: CA384366364

Gene: PKP2

Linked Data

• ClinVar Variation Id: 3075008
• ClinVar RCV Id: RCV004015534
• MyVariant Identifiers: chr12:g.33031864T>G (hg19) ; chr12:g.32878930T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878930T>G , CM000674.2:g.32878930T>G	GRCh38
NC_000012.11:g.33031864T>G , CM000674.1:g.33031864T>G	GRCh37
NC_000012.10:g.32923131T>G	NCBI36
NG_009000.1:g.22917A>C , LRG_398:g.22917A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.326A>C	ENSP00000515065.2:p.Asp109Ala
ENST00000700563.2:c.326A>C	ENSP00000515066.2:p.Asp109Ala
ENST00000700563.1:c.280A>C
ENST00000700564.1:n.330A>C
ENST00000700565.1:n.179A>C
ENST00000070846.11:c.326A>C	ENSP00000070846.6:p.Asp109Ala
ENST00000340811.9:c.326A>C MANE Select	ENSP00000342800.5:p.Asp109Ala
ENST00000070846.10:c.326A>C	ENSP00000070846.6:p.Asp109Ala
ENST00000340811.8:c.326A>C	ENSP00000342800.4:p.Asp109Ala
ENST00000613243.1:c.326A>C	ENSP00000478295.1:p.Asp109Ala
NM_001005242.2:c.326A>C	NP_001005242.2:p.Asp109Ala
NM_004572.3:c.326A>C , LRG_398t1:c.326A>C	NP_004563.2:p.Asp109Ala
NM_001005242.3:c.326A>C MANE Select	NP_001005242.2:p.Asp109Ala
NM_004572.4:c.326A>C	NP_004563.2:p.Asp109Ala