Canonical Allele Identifier: CA479176113

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32974353G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821419G>A , CM000674.2:g.32821419G>A	GRCh38
NC_000012.11:g.32974353G>A , CM000674.1:g.32974353G>A	GRCh37
NC_000012.10:g.32865620G>A	NCBI36
NG_009000.1:g.80428C>T , LRG_398:g.80428C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.453C>T
ENST00000700559.2:c.1950C>T	ENSP00000515065.2:p.Val650=
ENST00000700563.2:c.1950C>T	ENSP00000515066.2:p.Val650=
ENST00000546498.2:n.637C>T
ENST00000549461.2:n.489C>T
ENST00000700555.1:c.381C>T	ENSP00000515062.1:p.Val127=
ENST00000700556.1:c.421C>T
ENST00000700558.1:n.164C>T
ENST00000700559.1:c.1165C>T
ENST00000700560.1:n.1165C>T
ENST00000700561.1:n.1291C>T
ENST00000700562.1:n.488C>T
ENST00000700563.1:c.1904C>T
ENST00000700564.1:n.1954C>T
ENST00000070846.11:c.2082C>T	ENSP00000070846.6:p.Val694=
ENST00000340811.9:c.1950C>T MANE Select	ENSP00000342800.5:p.Val650=
ENST00000070846.10:c.2082C>T	ENSP00000070846.6:p.Val694=
ENST00000340811.8:c.1950C>T	ENSP00000342800.4:p.Val650=
ENST00000549461.1:n.396C>T
ENST00000552612.5:n.371C>T
ENST00000613243.1:c.2082C>T	ENSP00000478295.1:p.Val694=
NM_001005242.2:c.1950C>T	NP_001005242.2:p.Val650=
NM_004572.3:c.2082C>T , LRG_398t1:c.2082C>T	NP_004563.2:p.Val694=
NM_001005242.3:c.1950C>T MANE Select	NP_001005242.2:p.Val650=
NM_004572.4:c.2082C>T	NP_004563.2:p.Val694=