Canonical Allele Identifier: CA384357477

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32949045A>C (hg19) ; chr12:g.32796111A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796111A>C , CM000674.2:g.32796111A>C	GRCh38
NC_000012.11:g.32949045A>C , CM000674.1:g.32949045A>C	GRCh37
NC_000012.10:g.32840312A>C	NCBI36
NG_009000.1:g.105736T>G , LRG_398:g.105736T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.858T>G
ENST00000700557.2:n.447T>G
ENST00000700559.2:c.2168-3380T>G	ENSP00000515065.2:n.2168-3380T>G
ENST00000546498.2:n.1042T>G
ENST00000549461.2:n.847T>G
ENST00000700555.1:c.786T>G	ENSP00000515062.1:p.Asp262Glu
ENST00000700556.1:c.826T>G
ENST00000700557.1:c.366T>G	ENSP00000515064.1:p.Asp122Glu
ENST00000700558.1:n.569T>G
ENST00000700559.1:c.1383-3380T>G
ENST00000700560.1:n.1570T>G
ENST00000700561.1:n.1696T>G
ENST00000070846.11:c.2487T>G	ENSP00000070846.6:p.Asp829Glu
ENST00000340811.9:c.2355T>G MANE Select	ENSP00000342800.5:p.Asp785Glu
ENST00000070846.10:c.2487T>G	ENSP00000070846.6:p.Asp829Glu
ENST00000340811.8:c.2355T>G	ENSP00000342800.4:p.Asp785Glu
ENST00000613243.1:c.2485T>G	ENSP00000478295.1:n.2485T>G
NM_001005242.2:c.2355T>G	NP_001005242.2:p.Asp785Glu
NM_004572.3:c.2487T>G , LRG_398t1:c.2487T>G	NP_004563.2:p.Asp829Glu
NM_001005242.3:c.2355T>G MANE Select	NP_001005242.2:p.Asp785Glu
NM_004572.4:c.2487T>G	NP_004563.2:p.Asp829Glu