Canonical Allele Identifier: CA032533

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821430C>T , CM000674.2:g.32821430C>T	GRCh38
NC_000012.11:g.32974364C>T , CM000674.1:g.32974364C>T	GRCh37
NC_000012.10:g.32865631C>T	NCBI36
NG_009000.1:g.80417G>A , LRG_398:g.80417G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.1939G>A MANE Select	NP_001005242.2:p.Ala647Thr
ENST00000340811.9:c.1939G>A MANE Select	ENSP00000342800.5:p.Ala647Thr
NM_001005242.2:c.1939G>A	NP_001005242.2:p.Ala647Thr
NM_004572.3:c.2071G>A , LRG_398t1:c.2071G>A	NP_004563.2:p.Ala691Thr
NM_004572.4:c.2071G>A	NP_004563.2:p.Ala691Thr
ENST00000070846.10:c.2071G>A	ENSP00000070846.6:p.Ala691Thr
ENST00000070846.11:c.2071G>A	ENSP00000070846.6:p.Ala691Thr
ENST00000340811.8:c.1939G>A	ENSP00000342800.4:p.Ala647Thr
ENST00000546498.2:n.626G>A
ENST00000549461.1:n.385G>A
ENST00000549461.2:n.478G>A
ENST00000552612.5:n.360G>A
ENST00000613243.1:c.2071G>A	ENSP00000478295.1:p.Ala691Thr
ENST00000700555.1:c.370G>A	ENSP00000515062.1:p.Ala124Thr
ENST00000700555.2:n.442G>A
ENST00000700556.1:c.410G>A
ENST00000700558.1:n.153G>A
ENST00000700559.1:c.1154G>A
ENST00000700559.2:c.1939G>A	ENSP00000515065.2:p.Ala647Thr
ENST00000700560.1:n.1154G>A
ENST00000700561.1:n.1280G>A
ENST00000700562.1:n.477G>A
ENST00000700563.1:c.1893G>A
ENST00000700563.2:c.1939G>A	ENSP00000515066.2:p.Ala647Thr
ENST00000700564.1:n.1943G>A