Canonical Allele Identifier: CA479172943

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32949138T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796204T>G , CM000674.2:g.32796204T>G	GRCh38
NC_000012.11:g.32949138T>G , CM000674.1:g.32949138T>G	GRCh37
NC_000012.10:g.32840405T>G	NCBI36
NG_009000.1:g.105643A>C , LRG_398:g.105643A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.765A>C
ENST00000700557.2:n.354A>C
ENST00000700559.2:c.2168-3473A>C	ENSP00000515065.2:n.2168-3473A>C
ENST00000546498.2:n.949A>C
ENST00000549461.2:n.754A>C
ENST00000700555.1:c.693A>C	ENSP00000515062.1:p.Thr231=
ENST00000700556.1:c.733A>C
ENST00000700557.1:c.273A>C	ENSP00000515064.1:p.Thr91=
ENST00000700558.1:n.476A>C
ENST00000700559.1:c.1383-3473A>C
ENST00000700560.1:n.1477A>C
ENST00000700561.1:n.1603A>C
ENST00000070846.11:c.2394A>C	ENSP00000070846.6:p.Thr798=
ENST00000340811.9:c.2262A>C MANE Select	ENSP00000342800.5:p.Thr754=
ENST00000070846.10:c.2394A>C	ENSP00000070846.6:p.Thr798=
ENST00000340811.8:c.2262A>C	ENSP00000342800.4:p.Thr754=
ENST00000613243.1:c.2394A>C	ENSP00000478295.1:p.Thr798=
NM_001005242.2:c.2262A>C	NP_001005242.2:p.Thr754=
NM_004572.3:c.2394A>C , LRG_398t1:c.2394A>C	NP_004563.2:p.Thr798=
NM_001005242.3:c.2262A>C MANE Select	NP_001005242.2:p.Thr754=
NM_004572.4:c.2394A>C	NP_004563.2:p.Thr798=