Canonical Allele Identifier: CA384362895

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32975452G>T (hg19) ; chr12:g.32822518G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822518G>T , CM000674.2:g.32822518G>T	GRCh38
NC_000012.11:g.32975452G>T , CM000674.1:g.32975452G>T	GRCh37
NC_000012.10:g.32866719G>T	NCBI36
NG_009000.1:g.79329C>A , LRG_398:g.79329C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.300C>A
ENST00000700559.2:c.1788C>A	ENSP00000515065.2:p.Asp596Glu
ENST00000700563.2:c.1788C>A	ENSP00000515066.2:p.Asp596Glu
ENST00000546498.2:n.475C>A
ENST00000700555.1:c.228C>A	ENSP00000515062.1:p.Asp76Glu
ENST00000700556.1:c.259C>A
ENST00000700559.1:c.1003C>A
ENST00000700560.1:n.1003C>A
ENST00000700561.1:n.1129C>A
ENST00000700563.1:c.1742C>A
ENST00000700564.1:n.1792C>A
ENST00000070846.11:c.1920C>A	ENSP00000070846.6:p.Asp640Glu
ENST00000340811.9:c.1788C>A MANE Select	ENSP00000342800.5:p.Asp596Glu
ENST00000070846.10:c.1920C>A	ENSP00000070846.6:p.Asp640Glu
ENST00000340811.8:c.1788C>A	ENSP00000342800.4:p.Asp596Glu
ENST00000546498.1:n.475C>A
ENST00000552612.5:n.209C>A
ENST00000613243.1:c.1920C>A	ENSP00000478295.1:p.Asp640Glu
NM_001005242.2:c.1788C>A	NP_001005242.2:p.Asp596Glu
NM_004572.3:c.1920C>A , LRG_398t1:c.1920C>A	NP_004563.2:p.Asp640Glu
NM_001005242.3:c.1788C>A MANE Select	NP_001005242.2:p.Asp596Glu
NM_004572.4:c.1920C>A	NP_004563.2:p.Asp640Glu