Canonical Allele Identifier: CA034998

Gene: PKP2

Linked Data

• ClinVar Variation Id: 533036
• ClinVar RCV Id: RCV000640011 ; RCV001176618 ; RCV002458047 ; RCV004003904
• dbSNP Id: rs766802880
• ExAC: 12:33031954 C / T
• gnomAD v2: 12-33031954-C-T
• gnomAD v3: 12-32879020-C-T
• gnomAD v4: 12-32879020-C-T
• COSMIC: COSM1220830
• MyVariant Identifiers: chr12:g.33031954C>T (hg19) ; chr12:g.32879020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32879020C>T , CM000674.2:g.32879020C>T	GRCh38
NC_000012.11:g.33031954C>T , CM000674.1:g.33031954C>T	GRCh37
NC_000012.10:g.32923221C>T	NCBI36
NG_009000.1:g.22827G>A , LRG_398:g.22827G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.236G>A	ENSP00000515065.2:p.Arg79Gln
ENST00000700563.2:c.236G>A	ENSP00000515066.2:p.Arg79Gln
ENST00000700563.1:c.190G>A
ENST00000700564.1:n.240G>A
ENST00000700565.1:n.89G>A
ENST00000070846.11:c.236G>A	ENSP00000070846.6:p.Arg79Gln
ENST00000340811.9:c.236G>A MANE Select	ENSP00000342800.5:p.Arg79Gln
ENST00000070846.10:c.236G>A	ENSP00000070846.6:p.Arg79Gln
ENST00000340811.8:c.236G>A	ENSP00000342800.4:p.Arg79Gln
ENST00000613243.1:c.236G>A	ENSP00000478295.1:p.Arg79Gln
NM_001005242.2:c.236G>A	NP_001005242.2:p.Arg79Gln
NM_004572.3:c.236G>A , LRG_398t1:c.236G>A	NP_004563.2:p.Arg79Gln
NM_001005242.3:c.236G>A MANE Select	NP_001005242.2:p.Arg79Gln
NM_004572.4:c.236G>A	NP_004563.2:p.Arg79Gln