Canonical Allele Identifier: CA384367369

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32993992T>A (hg19) ; chr12:g.32841058T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841058T>A , CM000674.2:g.32841058T>A	GRCh38
NC_000012.11:g.32993992T>A , CM000674.1:g.32993992T>A	GRCh37
NC_000012.10:g.32885259T>A	NCBI36
NG_009000.1:g.60789A>T , LRG_398:g.60789A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1526A>T	ENSP00000515065.2:p.Asp509Val
ENST00000700563.2:c.1526A>T	ENSP00000515066.2:p.Asp509Val
ENST00000700559.1:c.741A>T
ENST00000700560.1:n.741A>T
ENST00000700561.1:n.867A>T
ENST00000700563.1:c.1480A>T
ENST00000700564.1:n.1530A>T
ENST00000700565.1:n.1379A>T
ENST00000070846.11:c.1658A>T	ENSP00000070846.6:p.Asp553Val
ENST00000340811.9:c.1526A>T MANE Select	ENSP00000342800.5:p.Asp509Val
ENST00000070846.10:c.1658A>T	ENSP00000070846.6:p.Asp553Val
ENST00000340811.8:c.1526A>T	ENSP00000342800.4:p.Asp509Val
ENST00000613243.1:c.1658A>T	ENSP00000478295.1:p.Asp553Val
NM_001005242.2:c.1526A>T	NP_001005242.2:p.Asp509Val
NM_004572.3:c.1658A>T , LRG_398t1:c.1658A>T	NP_004563.2:p.Asp553Val
NM_001005242.3:c.1526A>T MANE Select	NP_001005242.2:p.Asp509Val
NM_004572.4:c.1658A>T	NP_004563.2:p.Asp553Val