Canonical Allele Identifier: CA384368160

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32994131A>C (hg19) ; chr12:g.32841197A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841197A>C , CM000674.2:g.32841197A>C	GRCh38
NC_000012.11:g.32994131A>C , CM000674.1:g.32994131A>C	GRCh37
NC_000012.10:g.32885398A>C	NCBI36
NG_009000.1:g.60650T>G , LRG_398:g.60650T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1387T>G	ENSP00000515065.2:p.Trp463Gly
ENST00000700563.2:c.1387T>G	ENSP00000515066.2:p.Trp463Gly
ENST00000700559.1:c.602T>G
ENST00000700560.1:n.602T>G
ENST00000700561.1:n.728T>G
ENST00000700563.1:c.1341T>G
ENST00000700564.1:n.1391T>G
ENST00000700565.1:n.1240T>G
ENST00000070846.11:c.1519T>G	ENSP00000070846.6:p.Trp507Gly
ENST00000340811.9:c.1387T>G MANE Select	ENSP00000342800.5:p.Trp463Gly
ENST00000070846.10:c.1519T>G	ENSP00000070846.6:p.Trp507Gly
ENST00000340811.8:c.1387T>G	ENSP00000342800.4:p.Trp463Gly
ENST00000613243.1:c.1519T>G	ENSP00000478295.1:p.Trp507Gly
NM_001005242.2:c.1387T>G	NP_001005242.2:p.Trp463Gly
NM_004572.3:c.1519T>G , LRG_398t1:c.1519T>G	NP_004563.2:p.Trp507Gly
NM_001005242.3:c.1387T>G MANE Select	NP_001005242.2:p.Trp463Gly
NM_004572.4:c.1519T>G	NP_004563.2:p.Trp507Gly