Canonical Allele Identifier: CA2026374292

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802499G= , CM000674.2:g.32802499G=	GRCh38
NC_000012.11:g.32955433G= , CM000674.1:g.32955433G=	GRCh37
NC_000012.10:g.32846700G=	NCBI36
NG_009000.1:g.99348C= , LRG_398:g.99348C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.2071C= MANE Select	NP_001005242.2:p.Arg691=
ENST00000340811.9:c.2071C= MANE Select	ENSP00000342800.5:p.Arg691=
NM_001005242.2:c.2071C=	NP_001005242.2:p.Arg691=
NM_004572.3:c.2203C= , LRG_398t1:c.2203C=	NP_004563.2:p.Arg735=
NM_004572.4:c.2203C=	NP_004563.2:p.Arg735=
ENST00000070846.10:c.2203C=	ENSP00000070846.6:p.Arg735=
ENST00000070846.11:c.2203C=	ENSP00000070846.6:p.Arg735=
ENST00000340811.8:c.2071C=	ENSP00000342800.4:p.Arg691=
ENST00000546498.2:n.758C=
ENST00000549461.1:n.517C=
ENST00000549461.2:n.610C=
ENST00000613243.1:c.2203C=	ENSP00000478295.1:p.Arg735=
ENST00000700555.1:c.502C=	ENSP00000515062.1:p.Arg168=
ENST00000700555.2:n.574C=
ENST00000700556.1:c.542C=
ENST00000700557.1:c.82C=	ENSP00000515064.1:p.Arg28=
ENST00000700557.2:n.163C=
ENST00000700558.1:n.285C=
ENST00000700559.1:c.1286C=
ENST00000700559.2:c.2071C=	ENSP00000515065.2:p.Arg691=
ENST00000700560.1:n.1286C=
ENST00000700561.1:n.1412C=