Canonical Allele Identifier: CA384363435

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32975531A>T (hg19) ; chr12:g.32822597A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822597A>T , CM000674.2:g.32822597A>T	GRCh38
NC_000012.11:g.32975531A>T , CM000674.1:g.32975531A>T	GRCh37
NC_000012.10:g.32866798A>T	NCBI36
NG_009000.1:g.79250T>A , LRG_398:g.79250T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.221T>A
ENST00000700559.2:c.1709T>A	ENSP00000515065.2:p.Leu570His
ENST00000700563.2:c.1709T>A	ENSP00000515066.2:p.Leu570His
ENST00000546498.2:n.396T>A
ENST00000700555.1:c.149T>A	ENSP00000515062.1:p.Leu50His
ENST00000700556.1:c.180T>A
ENST00000700559.1:c.924T>A
ENST00000700560.1:n.924T>A
ENST00000700561.1:n.1050T>A
ENST00000700563.1:c.1663T>A
ENST00000700564.1:n.1713T>A
ENST00000070846.11:c.1841T>A	ENSP00000070846.6:p.Leu614His
ENST00000340811.9:c.1709T>A MANE Select	ENSP00000342800.5:p.Leu570His
ENST00000070846.10:c.1841T>A	ENSP00000070846.6:p.Leu614His
ENST00000340811.8:c.1709T>A	ENSP00000342800.4:p.Leu570His
ENST00000546498.1:n.396T>A
ENST00000552612.5:n.130T>A
ENST00000613243.1:c.1841T>A	ENSP00000478295.1:p.Leu614His
NM_001005242.2:c.1709T>A	NP_001005242.2:p.Leu570His
NM_004572.3:c.1841T>A , LRG_398t1:c.1841T>A	NP_004563.2:p.Leu614His
NM_001005242.3:c.1709T>A MANE Select	NP_001005242.2:p.Leu570His
NM_004572.4:c.1841T>A	NP_004563.2:p.Leu614His