Canonical Allele Identifier: CA011277

Gene: PKP2

Linked Data

• ClinVar Variation Id: 45037
• ClinVar RCV Id: RCV001770059 ; RCV003362674
• dbSNP Id: rs397517002
• ExAC: 12:32993990 T / C
• gnomAD v2: 12-32993990-T-C
• gnomAD v4: 12-32841056-T-C
• MyVariant Identifiers: chr12:g.32993990T>C (hg19) ; chr12:g.32841056T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841056T>C , CM000674.2:g.32841056T>C	GRCh38
NC_000012.11:g.32993990T>C , CM000674.1:g.32993990T>C	GRCh37
NC_000012.10:g.32885257T>C	NCBI36
NG_009000.1:g.60791A>G , LRG_398:g.60791A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1528A>G	ENSP00000515065.2:p.Ile510Val
ENST00000700563.2:c.1528A>G	ENSP00000515066.2:p.Ile510Val
ENST00000700559.1:c.743A>G
ENST00000700560.1:n.743A>G
ENST00000700561.1:n.869A>G
ENST00000700563.1:c.1482A>G
ENST00000700564.1:n.1532A>G
ENST00000700565.1:n.1381A>G
ENST00000070846.11:c.1660A>G	ENSP00000070846.6:p.Ile554Val
ENST00000340811.9:c.1528A>G MANE Select	ENSP00000342800.5:p.Ile510Val
ENST00000070846.10:c.1660A>G	ENSP00000070846.6:p.Ile554Val
ENST00000340811.8:c.1528A>G	ENSP00000342800.4:p.Ile510Val
ENST00000613243.1:c.1660A>G	ENSP00000478295.1:p.Ile554Val
NM_001005242.2:c.1528A>G	NP_001005242.2:p.Ile510Val
NM_004572.3:c.1660A>G , LRG_398t1:c.1660A>G	NP_004563.2:p.Ile554Val
NM_001005242.3:c.1528A>G MANE Select	NP_001005242.2:p.Ile510Val
NM_004572.4:c.1660A>G	NP_004563.2:p.Ile554Val