Canonical Allele Identifier: CA479174731

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955341T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802407T>C , CM000674.2:g.32802407T>C	GRCh38
NC_000012.11:g.32955341T>C , CM000674.1:g.32955341T>C	GRCh37
NC_000012.10:g.32846608T>C	NCBI36
NG_009000.1:g.99440A>G , LRG_398:g.99440A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.666A>G
ENST00000700557.2:n.255A>G
ENST00000700559.2:c.2163A>G	ENSP00000515065.2:p.Glu721=
ENST00000546498.2:n.850A>G
ENST00000549461.2:n.659+43A>G
ENST00000700555.1:c.594A>G	ENSP00000515062.1:p.Glu198=
ENST00000700556.1:c.634A>G
ENST00000700557.1:c.174A>G	ENSP00000515064.1:p.Glu58=
ENST00000700558.1:n.377A>G
ENST00000700559.1:c.1378A>G
ENST00000700560.1:n.1378A>G
ENST00000700561.1:n.1504A>G
ENST00000070846.11:c.2295A>G	ENSP00000070846.6:p.Glu765=
ENST00000340811.9:c.2163A>G MANE Select	ENSP00000342800.5:p.Glu721=
ENST00000070846.10:c.2295A>G	ENSP00000070846.6:p.Glu765=
ENST00000340811.8:c.2163A>G	ENSP00000342800.4:p.Glu721=
ENST00000613243.1:c.2295A>G	ENSP00000478295.1:p.Glu765=
NM_001005242.2:c.2163A>G	NP_001005242.2:p.Glu721=
NM_004572.3:c.2295A>G , LRG_398t1:c.2295A>G	NP_004563.2:p.Glu765=
NM_001005242.3:c.2163A>G MANE Select	NP_001005242.2:p.Glu721=
NM_004572.4:c.2295A>G	NP_004563.2:p.Glu765=