Canonical Allele Identifier: CA029923

Gene: PKP2

Linked Data

• dbSNP Id: rs745481390
• ExAC: 12:32993985 G / A
• gnomAD v2: 12-32993985-G-A
• gnomAD v4: 12-32841051-G-A
• MyVariant Identifiers: chr12:g.32993985G>A (hg19) ; chr12:g.32841051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841051G>A , CM000674.2:g.32841051G>A	GRCh38
NC_000012.11:g.32993985G>A , CM000674.1:g.32993985G>A	GRCh37
NC_000012.10:g.32885252G>A	NCBI36
NG_009000.1:g.60796C>T , LRG_398:g.60796C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1533C>T	ENSP00000515065.2:p.Phe511=
ENST00000700563.2:c.1533C>T	ENSP00000515066.2:p.Phe511=
ENST00000700556.1:c.4C>T
ENST00000700559.1:c.748C>T
ENST00000700560.1:n.748C>T
ENST00000700561.1:n.874C>T
ENST00000700563.1:c.1487C>T
ENST00000700564.1:n.1537C>T
ENST00000700565.1:n.1386C>T
ENST00000070846.11:c.1665C>T	ENSP00000070846.6:p.Phe555=
ENST00000340811.9:c.1533C>T MANE Select	ENSP00000342800.5:p.Phe511=
ENST00000070846.10:c.1665C>T	ENSP00000070846.6:p.Phe555=
ENST00000340811.8:c.1533C>T	ENSP00000342800.4:p.Phe511=
ENST00000613243.1:c.1665C>T	ENSP00000478295.1:p.Phe555=
NM_001005242.2:c.1533C>T	NP_001005242.2:p.Phe511=
NM_004572.3:c.1665C>T , LRG_398t1:c.1665C>T	NP_004563.2:p.Phe555=
NM_001005242.3:c.1533C>T MANE Select	NP_001005242.2:p.Phe511=
NM_004572.4:c.1665C>T	NP_004563.2:p.Phe555=