Canonical Allele Identifier: CA479176414

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32975539A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822605A>T , CM000674.2:g.32822605A>T	GRCh38
NC_000012.11:g.32975539A>T , CM000674.1:g.32975539A>T	GRCh37
NC_000012.10:g.32866806A>T	NCBI36
NG_009000.1:g.79242T>A , LRG_398:g.79242T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.213T>A
ENST00000700559.2:c.1701T>A	ENSP00000515065.2:p.Leu567=
ENST00000700563.2:c.1701T>A	ENSP00000515066.2:p.Leu567=
ENST00000546498.2:n.388T>A
ENST00000700555.1:c.141T>A	ENSP00000515062.1:p.Leu47=
ENST00000700556.1:c.172T>A
ENST00000700559.1:c.916T>A
ENST00000700560.1:n.916T>A
ENST00000700561.1:n.1042T>A
ENST00000700563.1:c.1655T>A
ENST00000700564.1:n.1705T>A
ENST00000070846.11:c.1833T>A	ENSP00000070846.6:p.Leu611=
ENST00000340811.9:c.1701T>A MANE Select	ENSP00000342800.5:p.Leu567=
ENST00000070846.10:c.1833T>A	ENSP00000070846.6:p.Leu611=
ENST00000340811.8:c.1701T>A	ENSP00000342800.4:p.Leu567=
ENST00000546498.1:n.388T>A
ENST00000552612.5:n.122T>A
ENST00000613243.1:c.1833T>A	ENSP00000478295.1:p.Leu611=
NM_001005242.2:c.1701T>A	NP_001005242.2:p.Leu567=
NM_004572.3:c.1833T>A , LRG_398t1:c.1833T>A	NP_004563.2:p.Leu611=
NM_001005242.3:c.1701T>A MANE Select	NP_001005242.2:p.Leu567=
NM_004572.4:c.1833T>A	NP_004563.2:p.Leu611=