Canonical Allele Identifier: CA2570200508

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796689G>A , CM000674.2:g.32796689G>A	GRCh38
NC_000012.11:g.32949623G>A , CM000674.1:g.32949623G>A	GRCh37
NC_000012.10:g.32840890G>A	NCBI36
NG_009000.1:g.105158C>T , LRG_398:g.105158C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-391C>T
ENST00000700557.2:n.260-391C>T
ENST00000700559.2:c.2168-3958C>T	ENSP00000515065.2:n.2168-3958C>T
ENST00000546498.2:n.855-391C>T
ENST00000549461.2:n.660-391C>T
ENST00000700555.1:c.599-391C>T	ENSP00000515062.1:n.599-391C>T
ENST00000700556.1:c.639-391C>T
ENST00000700557.1:c.179-391C>T	ENSP00000515064.1:n.179-391C>T
ENST00000700558.1:n.382-391C>T
ENST00000700559.1:c.1383-3958C>T
ENST00000700560.1:n.1383-391C>T
ENST00000700561.1:n.1509-391C>T
ENST00000070846.11:c.2300-391C>T	ENSP00000070846.6:n.2300-391C>T
ENST00000340811.9:c.2168-391C>T MANE Select	ENSP00000342800.5:n.2168-391C>T
ENST00000070846.10:c.2300-391C>T	ENSP00000070846.6:n.2300-391C>T
ENST00000340811.8:c.2168-391C>T	ENSP00000342800.4:n.2168-391C>T
ENST00000613243.1:c.2300-391C>T	ENSP00000478295.1:n.2300-391C>T
NM_001005242.2:c.2168-391C>T	NP_001005242.2:n.2168-391C>T
NM_004572.3:c.2300-391C>T , LRG_398t1:c.2300-391C>T	NP_004563.2:n.2300-391C>T
NM_001005242.3:c.2168-391C>T MANE Select	NP_001005242.2:n.2168-391C>T
NM_004572.4:c.2300-391C>T	NP_004563.2:n.2300-391C>T