Canonical Allele Identifier: CA384363677

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32975561G>T (hg19) ; chr12:g.32822627G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822627G>T , CM000674.2:g.32822627G>T	GRCh38
NC_000012.11:g.32975561G>T , CM000674.1:g.32975561G>T	GRCh37
NC_000012.10:g.32866828G>T	NCBI36
NG_009000.1:g.79220C>A , LRG_398:g.79220C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.191C>A
ENST00000700559.2:c.1679C>A	ENSP00000515065.2:p.Thr560Lys
ENST00000700563.2:c.1679C>A	ENSP00000515066.2:p.Thr560Lys
ENST00000546498.2:n.366C>A
ENST00000700555.1:c.119C>A	ENSP00000515062.1:p.Thr40Lys
ENST00000700556.1:c.150C>A
ENST00000700559.1:c.894C>A
ENST00000700560.1:n.894C>A
ENST00000700561.1:n.1020C>A
ENST00000700563.1:c.1633C>A
ENST00000700564.1:n.1683C>A
ENST00000070846.11:c.1811C>A	ENSP00000070846.6:p.Thr604Lys
ENST00000340811.9:c.1679C>A MANE Select	ENSP00000342800.5:p.Thr560Lys
ENST00000070846.10:c.1811C>A	ENSP00000070846.6:p.Thr604Lys
ENST00000340811.8:c.1679C>A	ENSP00000342800.4:p.Thr560Lys
ENST00000546498.1:n.366C>A
ENST00000552612.5:n.100C>A
ENST00000613243.1:c.1811C>A	ENSP00000478295.1:p.Thr604Lys
NM_001005242.2:c.1679C>A	NP_001005242.2:p.Thr560Lys
NM_004572.3:c.1811C>A , LRG_398t1:c.1811C>A	NP_004563.2:p.Thr604Lys
NM_001005242.3:c.1679C>A MANE Select	NP_001005242.2:p.Thr560Lys
NM_004572.4:c.1811C>A	NP_004563.2:p.Thr604Lys