Canonical Allele Identifier: CA384357520

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32949056T>C (hg19) ; chr12:g.32796122T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796122T>C , CM000674.2:g.32796122T>C	GRCh38
NC_000012.11:g.32949056T>C , CM000674.1:g.32949056T>C	GRCh37
NC_000012.10:g.32840323T>C	NCBI36
NG_009000.1:g.105725A>G , LRG_398:g.105725A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.847A>G
ENST00000700557.2:n.436A>G
ENST00000700559.2:c.2168-3391A>G	ENSP00000515065.2:n.2168-3391A>G
ENST00000546498.2:n.1031A>G
ENST00000549461.2:n.836A>G
ENST00000700555.1:c.775A>G	ENSP00000515062.1:p.Ser259Gly
ENST00000700556.1:c.815A>G
ENST00000700557.1:c.355A>G	ENSP00000515064.1:p.Ser119Gly
ENST00000700558.1:n.558A>G
ENST00000700559.1:c.1383-3391A>G
ENST00000700560.1:n.1559A>G
ENST00000700561.1:n.1685A>G
ENST00000070846.11:c.2476A>G	ENSP00000070846.6:p.Ser826Gly
ENST00000340811.9:c.2344A>G MANE Select	ENSP00000342800.5:p.Ser782Gly
ENST00000070846.10:c.2476A>G	ENSP00000070846.6:p.Ser826Gly
ENST00000340811.8:c.2344A>G	ENSP00000342800.4:p.Ser782Gly
ENST00000613243.1:c.2474A>G	ENSP00000478295.1:p.Ter825Trp
NM_001005242.2:c.2344A>G	NP_001005242.2:p.Ser782Gly
NM_004572.3:c.2476A>G , LRG_398t1:c.2476A>G	NP_004563.2:p.Ser826Gly
NM_001005242.3:c.2344A>G MANE Select	NP_001005242.2:p.Ser782Gly
NM_004572.4:c.2476A>G	NP_004563.2:p.Ser826Gly