Canonical Allele Identifier: CA479176106

Gene: PKP2

Linked Data

• dbSNP Id: rs1956375108
• MyVariant Identifiers: chr12:g.32974341T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821407T>C , CM000674.2:g.32821407T>C	GRCh38
NC_000012.11:g.32974341T>C , CM000674.1:g.32974341T>C	GRCh37
NC_000012.10:g.32865608T>C	NCBI36
NG_009000.1:g.80440A>G , LRG_398:g.80440A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.465A>G
ENST00000700559.2:c.1962A>G	ENSP00000515065.2:p.Thr654=
ENST00000700563.2:c.1962A>G	ENSP00000515066.2:p.Thr654=
ENST00000546498.2:n.649A>G
ENST00000549461.2:n.501A>G
ENST00000700555.1:c.393A>G	ENSP00000515062.1:p.Thr131=
ENST00000700556.1:c.433A>G
ENST00000700558.1:n.176A>G
ENST00000700559.1:c.1177A>G
ENST00000700560.1:n.1177A>G
ENST00000700561.1:n.1303A>G
ENST00000700562.1:n.500A>G
ENST00000700563.1:c.1916A>G
ENST00000700564.1:n.1966A>G
ENST00000070846.11:c.2094A>G	ENSP00000070846.6:p.Thr698=
ENST00000340811.9:c.1962A>G MANE Select	ENSP00000342800.5:p.Thr654=
ENST00000070846.10:c.2094A>G	ENSP00000070846.6:p.Thr698=
ENST00000340811.8:c.1962A>G	ENSP00000342800.4:p.Thr654=
ENST00000549461.1:n.408A>G
ENST00000552612.5:n.383A>G
ENST00000613243.1:c.2094A>G	ENSP00000478295.1:p.Thr698=
NM_001005242.2:c.1962A>G	NP_001005242.2:p.Thr654=
NM_004572.3:c.2094A>G , LRG_398t1:c.2094A>G	NP_004563.2:p.Thr698=
NM_001005242.3:c.1962A>G MANE Select	NP_001005242.2:p.Thr654=
NM_004572.4:c.2094A>G	NP_004563.2:p.Thr698=