Canonical Allele Identifier: CA2026397129

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822623C= , CM000674.2:g.32822623C=	GRCh38
NC_000012.11:g.32975557C= , CM000674.1:g.32975557C=	GRCh37
NC_000012.10:g.32866824C=	NCBI36
NG_009000.1:g.79224G= , LRG_398:g.79224G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.195G=
ENST00000700559.2:c.1683G=	ENSP00000515065.2:p.Glu561=
ENST00000700563.2:c.1683G=	ENSP00000515066.2:p.Glu561=
ENST00000546498.2:n.370G=
ENST00000700555.1:c.123G=	ENSP00000515062.1:p.Glu41=
ENST00000700556.1:c.154G=
ENST00000700559.1:c.898G=
ENST00000700560.1:n.898G=
ENST00000700561.1:n.1024G=
ENST00000700563.1:c.1637G=
ENST00000700564.1:n.1687G=
ENST00000070846.11:c.1815G=	ENSP00000070846.6:p.Glu605=
ENST00000340811.9:c.1683G= MANE Select	ENSP00000342800.5:p.Glu561=
ENST00000070846.10:c.1815G=	ENSP00000070846.6:p.Glu605=
ENST00000340811.8:c.1683G=	ENSP00000342800.4:p.Glu561=
ENST00000546498.1:n.370G=
ENST00000552612.5:n.104G=
ENST00000613243.1:c.1815G=	ENSP00000478295.1:p.Glu605=
NM_001005242.2:c.1683G=	NP_001005242.2:p.Glu561=
NM_004572.3:c.1815G= , LRG_398t1:c.1815G=	NP_004563.2:p.Glu605=
NM_001005242.3:c.1683G= MANE Select	NP_001005242.2:p.Glu561=
NM_004572.4:c.1815G=	NP_004563.2:p.Glu605=