Canonical Allele Identifier: CA2026373982

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802404A= , CM000674.2:g.32802404A=	GRCh38
NC_000012.11:g.32955338A= , CM000674.1:g.32955338A=	GRCh37
NC_000012.10:g.32846605A=	NCBI36
NG_009000.1:g.99443T= , LRG_398:g.99443T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.669T=
ENST00000700557.2:n.258T=
ENST00000700559.2:c.2166T=	ENSP00000515065.2:p.Ile722=
ENST00000546498.2:n.853T=
ENST00000549461.2:n.659+46T=
ENST00000700555.1:c.597T=	ENSP00000515062.1:p.Ile199=
ENST00000700556.1:c.637T=
ENST00000700557.1:c.177T=	ENSP00000515064.1:p.Ile59=
ENST00000700558.1:n.380T=
ENST00000700559.1:c.1381T=
ENST00000700560.1:n.1381T=
ENST00000700561.1:n.1507T=
ENST00000070846.11:c.2298T=	ENSP00000070846.6:p.Ile766=
ENST00000340811.9:c.2166T= MANE Select	ENSP00000342800.5:p.Ile722=
ENST00000070846.10:c.2298T=	ENSP00000070846.6:p.Ile766=
ENST00000340811.8:c.2166T=	ENSP00000342800.4:p.Ile722=
ENST00000613243.1:c.2298T=	ENSP00000478295.1:p.Ile766=
NM_001005242.2:c.2166T=	NP_001005242.2:p.Ile722=
NM_004572.3:c.2298T= , LRG_398t1:c.2298T=	NP_004563.2:p.Ile766=
NM_001005242.3:c.2166T= MANE Select	NP_001005242.2:p.Ile722=
NM_004572.4:c.2298T=	NP_004563.2:p.Ile766=