Canonical Allele Identifier: CA384357797

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32949144A>C (hg19) ; chr12:g.32796210A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796210A>C , CM000674.2:g.32796210A>C	GRCh38
NC_000012.11:g.32949144A>C , CM000674.1:g.32949144A>C	GRCh37
NC_000012.10:g.32840411A>C	NCBI36
NG_009000.1:g.105637T>G , LRG_398:g.105637T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.759T>G
ENST00000700557.2:n.348T>G
ENST00000700559.2:c.2168-3479T>G	ENSP00000515065.2:n.2168-3479T>G
ENST00000546498.2:n.943T>G
ENST00000549461.2:n.748T>G
ENST00000700555.1:c.687T>G	ENSP00000515062.1:p.Cys229Trp
ENST00000700556.1:c.727T>G
ENST00000700557.1:c.267T>G	ENSP00000515064.1:p.Cys89Trp
ENST00000700558.1:n.470T>G
ENST00000700559.1:c.1383-3479T>G
ENST00000700560.1:n.1471T>G
ENST00000700561.1:n.1597T>G
ENST00000070846.11:c.2388T>G	ENSP00000070846.6:p.Cys796Trp
ENST00000340811.9:c.2256T>G MANE Select	ENSP00000342800.5:p.Cys752Trp
ENST00000070846.10:c.2388T>G	ENSP00000070846.6:p.Cys796Trp
ENST00000340811.8:c.2256T>G	ENSP00000342800.4:p.Cys752Trp
ENST00000613243.1:c.2388T>G	ENSP00000478295.1:p.Cys796Trp
NM_001005242.2:c.2256T>G	NP_001005242.2:p.Cys752Trp
NM_004572.3:c.2388T>G , LRG_398t1:c.2388T>G	NP_004563.2:p.Cys796Trp
NM_001005242.3:c.2256T>G MANE Select	NP_001005242.2:p.Cys752Trp
NM_004572.4:c.2388T>G	NP_004563.2:p.Cys796Trp