Canonical Allele Identifier: CA384361699

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32974342G>C (hg19) ; chr12:g.32821408G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821408G>C , CM000674.2:g.32821408G>C	GRCh38
NC_000012.11:g.32974342G>C , CM000674.1:g.32974342G>C	GRCh37
NC_000012.10:g.32865609G>C	NCBI36
NG_009000.1:g.80439C>G , LRG_398:g.80439C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.464C>G
ENST00000700559.2:c.1961C>G	ENSP00000515065.2:p.Thr654Arg
ENST00000700563.2:c.1961C>G	ENSP00000515066.2:p.Thr654Arg
ENST00000546498.2:n.648C>G
ENST00000549461.2:n.500C>G
ENST00000700555.1:c.392C>G	ENSP00000515062.1:p.Thr131Arg
ENST00000700556.1:c.432C>G
ENST00000700558.1:n.175C>G
ENST00000700559.1:c.1176C>G
ENST00000700560.1:n.1176C>G
ENST00000700561.1:n.1302C>G
ENST00000700562.1:n.499C>G
ENST00000700563.1:c.1915C>G
ENST00000700564.1:n.1965C>G
ENST00000070846.11:c.2093C>G	ENSP00000070846.6:p.Thr698Arg
ENST00000340811.9:c.1961C>G MANE Select	ENSP00000342800.5:p.Thr654Arg
ENST00000070846.10:c.2093C>G	ENSP00000070846.6:p.Thr698Arg
ENST00000340811.8:c.1961C>G	ENSP00000342800.4:p.Thr654Arg
ENST00000549461.1:n.407C>G
ENST00000552612.5:n.382C>G
ENST00000613243.1:c.2093C>G	ENSP00000478295.1:p.Thr698Arg
NM_001005242.2:c.1961C>G	NP_001005242.2:p.Thr654Arg
NM_004572.3:c.2093C>G , LRG_398t1:c.2093C>G	NP_004563.2:p.Thr698Arg
NM_001005242.3:c.1961C>G MANE Select	NP_001005242.2:p.Thr654Arg
NM_004572.4:c.2093C>G	NP_004563.2:p.Thr698Arg