Canonical Allele Identifier: CA384357576

Gene: PKP2

Linked Data

• dbSNP Id: rs1956119542
• MyVariant Identifiers: chr12:g.32949071T>C (hg19) ; chr12:g.32796137T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796137T>C , CM000674.2:g.32796137T>C	GRCh38
NC_000012.11:g.32949071T>C , CM000674.1:g.32949071T>C	GRCh37
NC_000012.10:g.32840338T>C	NCBI36
NG_009000.1:g.105710A>G , LRG_398:g.105710A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.832A>G
ENST00000700557.2:n.421A>G
ENST00000700559.2:c.2168-3406A>G	ENSP00000515065.2:n.2168-3406A>G
ENST00000546498.2:n.1016A>G
ENST00000549461.2:n.821A>G
ENST00000700555.1:c.760A>G	ENSP00000515062.1:p.Lys254Glu
ENST00000700556.1:c.800A>G
ENST00000700557.1:c.340A>G	ENSP00000515064.1:p.Lys114Glu
ENST00000700558.1:n.543A>G
ENST00000700559.1:c.1383-3406A>G
ENST00000700560.1:n.1544A>G
ENST00000700561.1:n.1670A>G
ENST00000070846.11:c.2461A>G	ENSP00000070846.6:p.Lys821Glu
ENST00000340811.9:c.2329A>G MANE Select	ENSP00000342800.5:p.Lys777Glu
ENST00000070846.10:c.2461A>G	ENSP00000070846.6:p.Lys821Glu
ENST00000340811.8:c.2329A>G	ENSP00000342800.4:p.Lys777Glu
ENST00000613243.1:c.2459A>G	ENSP00000478295.1:p.Glu820Gly
NM_001005242.2:c.2329A>G	NP_001005242.2:p.Lys777Glu
NM_004572.3:c.2461A>G , LRG_398t1:c.2461A>G	NP_004563.2:p.Lys821Glu
NM_001005242.3:c.2329A>G MANE Select	NP_001005242.2:p.Lys777Glu
NM_004572.4:c.2461A>G	NP_004563.2:p.Lys821Glu