Canonical Allele Identifier: CA2026397010

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822549A= , CM000674.2:g.32822549A=	GRCh38
NC_000012.11:g.32975483A= , CM000674.1:g.32975483A=	GRCh37
NC_000012.10:g.32866750A=	NCBI36
NG_009000.1:g.79298T= , LRG_398:g.79298T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.269T=
ENST00000700559.2:c.1757T=	ENSP00000515065.2:p.Ile586=
ENST00000700563.2:c.1757T=	ENSP00000515066.2:p.Ile586=
ENST00000546498.2:n.444T=
ENST00000700555.1:c.197T=	ENSP00000515062.1:p.Ile66=
ENST00000700556.1:c.228T=
ENST00000700559.1:c.972T=
ENST00000700560.1:n.972T=
ENST00000700561.1:n.1098T=
ENST00000700563.1:c.1711T=
ENST00000700564.1:n.1761T=
ENST00000070846.11:c.1889T=	ENSP00000070846.6:p.Ile630=
ENST00000340811.9:c.1757T= MANE Select	ENSP00000342800.5:p.Ile586=
ENST00000070846.10:c.1889T=	ENSP00000070846.6:p.Ile630=
ENST00000340811.8:c.1757T=	ENSP00000342800.4:p.Ile586=
ENST00000546498.1:n.444T=
ENST00000552612.5:n.178T=
ENST00000613243.1:c.1889T=	ENSP00000478295.1:p.Ile630=
NM_001005242.2:c.1757T=	NP_001005242.2:p.Ile586=
NM_004572.3:c.1889T= , LRG_398t1:c.1889T=	NP_004563.2:p.Ile630=
NM_001005242.3:c.1757T= MANE Select	NP_001005242.2:p.Ile586=
NM_004572.4:c.1889T=	NP_004563.2:p.Ile630=