Canonical Allele Identifier: CA033406

Gene: PKP2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802498C>T , CM000674.2:g.32802498C>T	GRCh38
NC_000012.11:g.32955432C>T , CM000674.1:g.32955432C>T	GRCh37
NC_000012.10:g.32846699C>T	NCBI36
NG_009000.1:g.99349G>A , LRG_398:g.99349G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.575G>A
ENST00000700557.2:n.164G>A
ENST00000700559.2:c.2072G>A	ENSP00000515065.2:p.Arg691Gln
ENST00000546498.2:n.759G>A
ENST00000549461.2:n.611G>A
ENST00000700555.1:c.503G>A	ENSP00000515062.1:p.Arg168Gln
ENST00000700556.1:c.543G>A
ENST00000700557.1:c.83G>A	ENSP00000515064.1:p.Arg28Gln
ENST00000700558.1:n.286G>A
ENST00000700559.1:c.1287G>A
ENST00000700560.1:n.1287G>A
ENST00000700561.1:n.1413G>A
ENST00000070846.11:c.2204G>A	ENSP00000070846.6:p.Arg735Gln
ENST00000340811.9:c.2072G>A MANE Select	ENSP00000342800.5:p.Arg691Gln
ENST00000070846.10:c.2204G>A	ENSP00000070846.6:p.Arg735Gln
ENST00000340811.8:c.2072G>A	ENSP00000342800.4:p.Arg691Gln
ENST00000549461.1:n.518G>A
ENST00000613243.1:c.2204G>A	ENSP00000478295.1:p.Arg735Gln
NM_001005242.2:c.2072G>A	NP_001005242.2:p.Arg691Gln
NM_004572.3:c.2204G>A , LRG_398t1:c.2204G>A	NP_004563.2:p.Arg735Gln
NM_001005242.3:c.2072G>A MANE Select	NP_001005242.2:p.Arg691Gln
NM_004572.4:c.2204G>A	NP_004563.2:p.Arg735Gln