Canonical Allele Identifier: CA384360052

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955472G>A (hg19) ; chr12:g.32802538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802538G>A , CM000674.2:g.32802538G>A	GRCh38
NC_000012.11:g.32955472G>A , CM000674.1:g.32955472G>A	GRCh37
NC_000012.10:g.32846739G>A	NCBI36
NG_009000.1:g.99309C>T , LRG_398:g.99309C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.535C>T
ENST00000700557.2:n.124C>T
ENST00000700559.2:c.2032C>T	ENSP00000515065.2:p.Gln678Ter
ENST00000546498.2:n.719C>T
ENST00000549461.2:n.571C>T
ENST00000700555.1:c.463C>T	ENSP00000515062.1:p.Gln155Ter
ENST00000700556.1:c.503C>T
ENST00000700557.1:c.43C>T	ENSP00000515064.1:p.Gln15Ter
ENST00000700558.1:n.246C>T
ENST00000700559.1:c.1247C>T
ENST00000700560.1:n.1247C>T
ENST00000700561.1:n.1373C>T
ENST00000070846.11:c.2164C>T	ENSP00000070846.6:p.Gln722Ter
ENST00000340811.9:c.2032C>T MANE Select	ENSP00000342800.5:p.Gln678Ter
ENST00000070846.10:c.2164C>T	ENSP00000070846.6:p.Gln722Ter
ENST00000340811.8:c.2032C>T	ENSP00000342800.4:p.Gln678Ter
ENST00000549461.1:n.478C>T
ENST00000613243.1:c.2164C>T	ENSP00000478295.1:p.Gln722Ter
NM_001005242.2:c.2032C>T	NP_001005242.2:p.Gln678Ter
NM_004572.3:c.2164C>T , LRG_398t1:c.2164C>T	NP_004563.2:p.Gln722Ter
NM_001005242.3:c.2032C>T MANE Select	NP_001005242.2:p.Gln678Ter
NM_004572.4:c.2164C>T	NP_004563.2:p.Gln722Ter