Canonical Allele Identifier: CA011695

Gene: PKP2

Linked Data

• ClinVar Variation Id: 192128
• ClinVar RCV Id: RCV000172578 ; RCV000619439 ; RCV000769388 ; RCV001085947 ; RCV000610495 ; RCV003927575
• dbSNP Id: rs140852019
• ExAC: 12:32974348 T / C
• gnomAD v2: 12-32974348-T-C
• gnomAD v3: 12-32821414-T-C
• gnomAD v4: 12-32821414-T-C
• MyVariant Identifiers: chr12:g.32974348T>C (hg19) ; chr12:g.32821414T>C (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821414T>C , CM000674.2:g.32821414T>C	GRCh38
NC_000012.11:g.32974348T>C , CM000674.1:g.32974348T>C	GRCh37
NC_000012.10:g.32865615T>C	NCBI36
NG_009000.1:g.80433A>G , LRG_398:g.80433A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.458A>G
ENST00000700559.2:c.1955A>G	ENSP00000515065.2:p.Asn652Ser
ENST00000700563.2:c.1955A>G	ENSP00000515066.2:p.Asn652Ser
ENST00000546498.2:n.642A>G
ENST00000549461.2:n.494A>G
ENST00000700555.1:c.386A>G	ENSP00000515062.1:p.Asn129Ser
ENST00000700556.1:c.426A>G
ENST00000700558.1:n.169A>G
ENST00000700559.1:c.1170A>G
ENST00000700560.1:n.1170A>G
ENST00000700561.1:n.1296A>G
ENST00000700562.1:n.493A>G
ENST00000700563.1:c.1909A>G
ENST00000700564.1:n.1959A>G
ENST00000070846.11:c.2087A>G	ENSP00000070846.6:p.Asn696Ser
ENST00000340811.9:c.1955A>G MANE Select	ENSP00000342800.5:p.Asn652Ser
ENST00000070846.10:c.2087A>G	ENSP00000070846.6:p.Asn696Ser
ENST00000340811.8:c.1955A>G	ENSP00000342800.4:p.Asn652Ser
ENST00000549461.1:n.401A>G
ENST00000552612.5:n.376A>G
ENST00000613243.1:c.2087A>G	ENSP00000478295.1:p.Asn696Ser
NM_001005242.2:c.1955A>G	NP_001005242.2:p.Asn652Ser
NM_004572.3:c.2087A>G , LRG_398t1:c.2087A>G	NP_004563.2:p.Asn696Ser
NM_001005242.3:c.1955A>G MANE Select	NP_001005242.2:p.Asn652Ser
NM_004572.4:c.2087A>G	NP_004563.2:p.Asn696Ser