Canonical Allele Identifier: CA2026397103

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822599G= , CM000674.2:g.32822599G=	GRCh38
NC_000012.11:g.32975533G= , CM000674.1:g.32975533G=	GRCh37
NC_000012.10:g.32866800G=	NCBI36
NG_009000.1:g.79248C= , LRG_398:g.79248C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.219C=
ENST00000700559.2:c.1707C=	ENSP00000515065.2:p.Asn569=
ENST00000700563.2:c.1707C=	ENSP00000515066.2:p.Asn569=
ENST00000546498.2:n.394C=
ENST00000700555.1:c.147C=	ENSP00000515062.1:p.Asn49=
ENST00000700556.1:c.178C=
ENST00000700559.1:c.922C=
ENST00000700560.1:n.922C=
ENST00000700561.1:n.1048C=
ENST00000700563.1:c.1661C=
ENST00000700564.1:n.1711C=
ENST00000070846.11:c.1839C=	ENSP00000070846.6:p.Asn613=
ENST00000340811.9:c.1707C= MANE Select	ENSP00000342800.5:p.Asn569=
ENST00000070846.10:c.1839C=	ENSP00000070846.6:p.Asn613=
ENST00000340811.8:c.1707C=	ENSP00000342800.4:p.Asn569=
ENST00000546498.1:n.394C=
ENST00000552612.5:n.128C=
ENST00000613243.1:c.1839C=	ENSP00000478295.1:p.Asn613=
NM_001005242.2:c.1707C=	NP_001005242.2:p.Asn569=
NM_004572.3:c.1839C= , LRG_398t1:c.1839C=	NP_004563.2:p.Asn613=
NM_001005242.3:c.1707C= MANE Select	NP_001005242.2:p.Asn569=
NM_004572.4:c.1839C=	NP_004563.2:p.Asn613=