Canonical Allele Identifier: CA384361765

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1718819
• ClinVar RCV Id: RCV002304917
• MyVariant Identifiers: chr12:g.32974361T>C (hg19) ; chr12:g.32821427T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821427T>C , CM000674.2:g.32821427T>C	GRCh38
NC_000012.11:g.32974361T>C , CM000674.1:g.32974361T>C	GRCh37
NC_000012.10:g.32865628T>C	NCBI36
NG_009000.1:g.80420A>G , LRG_398:g.80420A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.445A>G
ENST00000700559.2:c.1942A>G	ENSP00000515065.2:p.Lys648Glu
ENST00000700563.2:c.1942A>G	ENSP00000515066.2:p.Lys648Glu
ENST00000546498.2:n.629A>G
ENST00000549461.2:n.481A>G
ENST00000700555.1:c.373A>G	ENSP00000515062.1:p.Lys125Glu
ENST00000700556.1:c.413A>G
ENST00000700558.1:n.156A>G
ENST00000700559.1:c.1157A>G
ENST00000700560.1:n.1157A>G
ENST00000700561.1:n.1283A>G
ENST00000700562.1:n.480A>G
ENST00000700563.1:c.1896A>G
ENST00000700564.1:n.1946A>G
ENST00000070846.11:c.2074A>G	ENSP00000070846.6:p.Lys692Glu
ENST00000340811.9:c.1942A>G MANE Select	ENSP00000342800.5:p.Lys648Glu
ENST00000070846.10:c.2074A>G	ENSP00000070846.6:p.Lys692Glu
ENST00000340811.8:c.1942A>G	ENSP00000342800.4:p.Lys648Glu
ENST00000549461.1:n.388A>G
ENST00000552612.5:n.363A>G
ENST00000613243.1:c.2074A>G	ENSP00000478295.1:p.Lys692Glu
NM_001005242.2:c.1942A>G	NP_001005242.2:p.Lys648Glu
NM_004572.3:c.2074A>G , LRG_398t1:c.2074A>G	NP_004563.2:p.Lys692Glu
NM_001005242.3:c.1942A>G MANE Select	NP_001005242.2:p.Lys648Glu
NM_004572.4:c.2074A>G	NP_004563.2:p.Lys692Glu