Canonical Allele Identifier: CA384366652

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2691230
• ClinVar RCV Id: RCV003487252
• MyVariant Identifiers: chr12:g.33031946T>G (hg19) ; chr12:g.32879012T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32879012T>G , CM000674.2:g.32879012T>G	GRCh38
NC_000012.11:g.33031946T>G , CM000674.1:g.33031946T>G	GRCh37
NC_000012.10:g.32923213T>G	NCBI36
NG_009000.1:g.22835A>C , LRG_398:g.22835A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.244A>C	ENSP00000515065.2:p.Ser82Arg
ENST00000700563.2:c.244A>C	ENSP00000515066.2:p.Ser82Arg
ENST00000700563.1:c.198A>C
ENST00000700564.1:n.248A>C
ENST00000700565.1:n.97A>C
ENST00000070846.11:c.244A>C	ENSP00000070846.6:p.Ser82Arg
ENST00000340811.9:c.244A>C MANE Select	ENSP00000342800.5:p.Ser82Arg
ENST00000070846.10:c.244A>C	ENSP00000070846.6:p.Ser82Arg
ENST00000340811.8:c.244A>C	ENSP00000342800.4:p.Ser82Arg
ENST00000613243.1:c.244A>C	ENSP00000478295.1:p.Ser82Arg
NM_001005242.2:c.244A>C	NP_001005242.2:p.Ser82Arg
NM_004572.3:c.244A>C , LRG_398t1:c.244A>C	NP_004563.2:p.Ser82Arg
NM_001005242.3:c.244A>C MANE Select	NP_001005242.2:p.Ser82Arg
NM_004572.4:c.244A>C	NP_004563.2:p.Ser82Arg