Canonical Allele Identifier: CA036509

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1414793
• ClinVar RCV Id: RCV001920832 ; RCV004010873
• dbSNP Id: rs769509055
• ExAC: 12:33031892 C / T
• gnomAD v2: 12-33031892-C-T
• gnomAD v3: 12-32878958-C-T
• gnomAD v4: 12-32878958-C-T
• MyVariant Identifiers: chr12:g.33031892C>T (hg19) ; chr12:g.32878958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878958C>T , CM000674.2:g.32878958C>T	GRCh38
NC_000012.11:g.33031892C>T , CM000674.1:g.33031892C>T	GRCh37
NC_000012.10:g.32923159C>T	NCBI36
NG_009000.1:g.22889G>A , LRG_398:g.22889G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.298G>A	ENSP00000515065.2:p.Gly100Ser
ENST00000700563.2:c.298G>A	ENSP00000515066.2:p.Gly100Ser
ENST00000700563.1:c.252G>A
ENST00000700564.1:n.302G>A
ENST00000700565.1:n.151G>A
ENST00000070846.11:c.298G>A	ENSP00000070846.6:p.Gly100Ser
ENST00000340811.9:c.298G>A MANE Select	ENSP00000342800.5:p.Gly100Ser
ENST00000070846.10:c.298G>A	ENSP00000070846.6:p.Gly100Ser
ENST00000340811.8:c.298G>A	ENSP00000342800.4:p.Gly100Ser
ENST00000613243.1:c.298G>A	ENSP00000478295.1:p.Gly100Ser
NM_001005242.2:c.298G>A	NP_001005242.2:p.Gly100Ser
NM_004572.3:c.298G>A , LRG_398t1:c.298G>A	NP_004563.2:p.Gly100Ser
NM_001005242.3:c.298G>A MANE Select	NP_001005242.2:p.Gly100Ser
NM_004572.4:c.298G>A	NP_004563.2:p.Gly100Ser