Canonical Allele Identifier: CA2026397099

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822598G= , CM000674.2:g.32822598G=	GRCh38
NC_000012.11:g.32975532G= , CM000674.1:g.32975532G=	GRCh37
NC_000012.10:g.32866799G=	NCBI36
NG_009000.1:g.79249C= , LRG_398:g.79249C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.220C=
ENST00000700559.2:c.1708C=	ENSP00000515065.2:p.Leu570=
ENST00000700563.2:c.1708C=	ENSP00000515066.2:p.Leu570=
ENST00000546498.2:n.395C=
ENST00000700555.1:c.148C=	ENSP00000515062.1:p.Leu50=
ENST00000700556.1:c.179C=
ENST00000700559.1:c.923C=
ENST00000700560.1:n.923C=
ENST00000700561.1:n.1049C=
ENST00000700563.1:c.1662C=
ENST00000700564.1:n.1712C=
ENST00000070846.11:c.1840C=	ENSP00000070846.6:p.Leu614=
ENST00000340811.9:c.1708C= MANE Select	ENSP00000342800.5:p.Leu570=
ENST00000070846.10:c.1840C=	ENSP00000070846.6:p.Leu614=
ENST00000340811.8:c.1708C=	ENSP00000342800.4:p.Leu570=
ENST00000546498.1:n.395C=
ENST00000552612.5:n.129C=
ENST00000613243.1:c.1840C=	ENSP00000478295.1:p.Leu614=
NM_001005242.2:c.1708C=	NP_001005242.2:p.Leu570=
NM_004572.3:c.1840C= , LRG_398t1:c.1840C=	NP_004563.2:p.Leu614=
NM_001005242.3:c.1708C= MANE Select	NP_001005242.2:p.Leu570=
NM_004572.4:c.1840C=	NP_004563.2:p.Leu614=