Canonical Allele Identifier: CA039734

Gene: PKP2

Linked Data

• ClinVar Variation Id: 568756
• ClinVar RCV Id: RCV000689209 ; RCV001561511 ; RCV000770421 ; RCV002386178 ; RCV004004295
• dbSNP Id: rs201803918
• ExAC: 12:33030840 G / A
• gnomAD v2: 12-33030840-G-A
• gnomAD v3: 12-32877906-G-A
• gnomAD v4: 12-32877906-G-A
• MyVariant Identifiers: chr12:g.33030840G>A (hg19) ; chr12:g.32877906G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32877906G>A , CM000674.2:g.32877906G>A	GRCh38
NC_000012.11:g.33030840G>A , CM000674.1:g.33030840G>A	GRCh37
NC_000012.10:g.32922107G>A	NCBI36
NG_009000.1:g.23941C>T , LRG_398:g.23941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.974C>T	ENSP00000515065.2:p.Ala325Val
ENST00000700563.2:c.974C>T	ENSP00000515066.2:p.Ala325Val
ENST00000700559.1:c.189C>T
ENST00000700560.1:n.189C>T
ENST00000700561.1:n.315C>T
ENST00000700563.1:c.928C>T
ENST00000700564.1:n.978C>T
ENST00000700565.1:n.827C>T
ENST00000070846.11:c.974C>T	ENSP00000070846.6:p.Ala325Val
ENST00000340811.9:c.974C>T MANE Select	ENSP00000342800.5:p.Ala325Val
ENST00000070846.10:c.974C>T	ENSP00000070846.6:p.Ala325Val
ENST00000340811.8:c.974C>T	ENSP00000342800.4:p.Ala325Val
ENST00000613243.1:c.974C>T	ENSP00000478295.1:p.Ala325Val
NM_001005242.2:c.974C>T	NP_001005242.2:p.Ala325Val
NM_004572.3:c.974C>T , LRG_398t1:c.974C>T	NP_004563.2:p.Ala325Val
NM_001005242.3:c.974C>T MANE Select	NP_001005242.2:p.Ala325Val
NM_004572.4:c.974C>T	NP_004563.2:p.Ala325Val