Canonical Allele Identifier: CA011445

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824047T>A , CM000674.2:g.32824047T>A	GRCh38
NC_000012.11:g.32976981T>A , CM000674.1:g.32976981T>A	GRCh37
NC_000012.10:g.32868248T>A	NCBI36
NG_009000.1:g.77800A>T , LRG_398:g.77800A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.184A>T
ENST00000700559.2:c.1672A>T	ENSP00000515065.2:p.Lys558Ter
ENST00000700563.2:c.1672A>T	ENSP00000515066.2:p.Lys558Ter
ENST00000546498.2:n.359A>T
ENST00000700555.1:c.112A>T	ENSP00000515062.1:p.Lys38Ter
ENST00000700556.1:c.143A>T
ENST00000700559.1:c.887A>T
ENST00000700560.1:n.887A>T
ENST00000700561.1:n.1013A>T
ENST00000700563.1:c.1626A>T
ENST00000700564.1:n.1676A>T
ENST00000070846.11:c.1804A>T	ENSP00000070846.6:p.Lys602Ter
ENST00000340811.9:c.1672A>T MANE Select	ENSP00000342800.5:p.Lys558Ter
ENST00000070846.10:c.1804A>T	ENSP00000070846.6:p.Lys602Ter
ENST00000340811.8:c.1672A>T	ENSP00000342800.4:p.Lys558Ter
ENST00000546498.1:n.359A>T
ENST00000552612.5:n.93A>T
ENST00000613243.1:c.1804A>T	ENSP00000478295.1:p.Lys602Ter
NM_001005242.2:c.1672A>T	NP_001005242.2:p.Lys558Ter
NM_004572.3:c.1804A>T , LRG_398t1:c.1804A>T	NP_004563.2:p.Lys602Ter
NM_001005242.3:c.1672A>T MANE Select	NP_001005242.2:p.Lys558Ter
NM_004572.4:c.1804A>T	NP_004563.2:p.Lys602Ter