Canonical Allele Identifier: CA384360073

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955483G>T (hg19) ; chr12:g.32802549G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802549G>T , CM000674.2:g.32802549G>T	GRCh38
NC_000012.11:g.32955483G>T , CM000674.1:g.32955483G>T	GRCh37
NC_000012.10:g.32846750G>T	NCBI36
NG_009000.1:g.99298C>A , LRG_398:g.99298C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.524C>A
ENST00000700557.2:n.113C>A
ENST00000700559.2:c.2021C>A	ENSP00000515065.2:p.Thr674Lys
ENST00000546498.2:n.708C>A
ENST00000549461.2:n.560C>A
ENST00000700555.1:c.452C>A	ENSP00000515062.1:p.Thr151Lys
ENST00000700556.1:c.492C>A
ENST00000700557.1:c.32C>A	ENSP00000515064.1:p.Thr11Lys
ENST00000700558.1:n.235C>A
ENST00000700559.1:c.1236C>A
ENST00000700560.1:n.1236C>A
ENST00000700561.1:n.1362C>A
ENST00000070846.11:c.2153C>A	ENSP00000070846.6:p.Thr718Lys
ENST00000340811.9:c.2021C>A MANE Select	ENSP00000342800.5:p.Thr674Lys
ENST00000070846.10:c.2153C>A	ENSP00000070846.6:p.Thr718Lys
ENST00000340811.8:c.2021C>A	ENSP00000342800.4:p.Thr674Lys
ENST00000549461.1:n.467C>A
ENST00000613243.1:c.2153C>A	ENSP00000478295.1:p.Thr718Lys
NM_001005242.2:c.2021C>A	NP_001005242.2:p.Thr674Lys
NM_004572.3:c.2153C>A , LRG_398t1:c.2153C>A	NP_004563.2:p.Thr718Lys
NM_001005242.3:c.2021C>A MANE Select	NP_001005242.2:p.Thr674Lys
NM_004572.4:c.2153C>A	NP_004563.2:p.Thr718Lys