Canonical Allele Identifier: CA384358917

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.33021862C>T (hg19) ; chr12:g.32868928C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868928C>T , CM000674.2:g.32868928C>T	GRCh38
NC_000012.11:g.33021862C>T , CM000674.1:g.33021862C>T	GRCh37
NC_000012.10:g.32913129C>T	NCBI36
NG_009000.1:g.32919G>A , LRG_398:g.32919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1169G>A	ENSP00000515065.2:p.Arg390Lys
ENST00000700563.2:c.1169G>A	ENSP00000515066.2:p.Arg390Lys
ENST00000700559.1:c.384G>A
ENST00000700560.1:n.384G>A
ENST00000700561.1:n.510G>A
ENST00000700563.1:c.1123G>A
ENST00000700564.1:n.1173G>A
ENST00000700565.1:n.1022G>A
ENST00000070846.11:c.1169G>A	ENSP00000070846.6:p.Arg390Lys
ENST00000340811.9:c.1169G>A MANE Select	ENSP00000342800.5:p.Arg390Lys
ENST00000070846.10:c.1169G>A	ENSP00000070846.6:p.Arg390Lys
ENST00000340811.8:c.1169G>A	ENSP00000342800.4:p.Arg390Lys
ENST00000613243.1:c.1169G>A	ENSP00000478295.1:p.Arg390Lys
NM_001005242.2:c.1169G>A	NP_001005242.2:p.Arg390Lys
NM_004572.3:c.1169G>A , LRG_398t1:c.1169G>A	NP_004563.2:p.Arg390Lys
NM_001005242.3:c.1169G>A MANE Select	NP_001005242.2:p.Arg390Lys
NM_004572.4:c.1169G>A	NP_004563.2:p.Arg390Lys