Canonical Allele Identifier: CA479177849

Gene: PKP2

Linked Data

• ClinVar Variation Id: 626803
• ClinVar RCV Id: RCV000770416
• dbSNP Id: rs1565590176
• MyVariant Identifiers: chr12:g.33003701T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850767T>A , CM000674.2:g.32850767T>A	GRCh38
NC_000012.11:g.33003701T>A , CM000674.1:g.33003701T>A	GRCh37
NC_000012.10:g.32894968T>A	NCBI36
NG_009000.1:g.51080A>T , LRG_398:g.51080A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1377A>T	ENSP00000515065.2:p.Thr459=
ENST00000700563.2:c.1377A>T	ENSP00000515066.2:p.Thr459=
ENST00000700559.1:c.592A>T
ENST00000700560.1:n.592A>T
ENST00000700561.1:n.718A>T
ENST00000700563.1:c.1331A>T
ENST00000700564.1:n.1381A>T
ENST00000700565.1:n.1230A>T
ENST00000070846.11:c.1377A>T	ENSP00000070846.6:p.Thr459=
ENST00000340811.9:c.1377A>T MANE Select	ENSP00000342800.5:p.Thr459=
ENST00000070846.10:c.1377A>T	ENSP00000070846.6:p.Thr459=
ENST00000340811.8:c.1377A>T	ENSP00000342800.4:p.Thr459=
ENST00000613243.1:c.1377A>T	ENSP00000478295.1:p.Thr459=
NM_001005242.2:c.1377A>T	NP_001005242.2:p.Thr459=
NM_004572.3:c.1377A>T , LRG_398t1:c.1377A>T	NP_004563.2:p.Thr459=
NM_001005242.3:c.1377A>T MANE Select	NP_001005242.2:p.Thr459=
NM_004572.4:c.1377A>T	NP_004563.2:p.Thr459=