Canonical Allele Identifier: CA2026389600

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850878_32850880delinsTAA , CM000674.2:g.32850878_32850880delinsTAA	GRCh38
NC_000012.11:g.33003812_33003814delinsTAA , CM000674.1:g.33003812_33003814delinsTAA	GRCh37
NC_000012.10:g.32895079_32895081delinsTAA	NCBI36
NG_009000.1:g.50967_50969delinsTTA , LRG_398:g.50967_50969delinsTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1264_1266delinsTTA	ENSP00000515065.2:p.Leu422=
ENST00000700563.2:c.1264_1266delinsTTA	ENSP00000515066.2:p.Leu422=
ENST00000700559.1:c.479_481delinsTTA
ENST00000700560.1:n.479_481delinsTTA
ENST00000700561.1:n.605_607delinsTTA
ENST00000700563.1:c.1218_1220delinsTTA
ENST00000700564.1:n.1268_1270delinsTTA
ENST00000700565.1:n.1117_1119delinsTTA
ENST00000070846.11:c.1264_1266delinsTTA	ENSP00000070846.6:p.Leu422=
ENST00000340811.9:c.1264_1266delinsTTA MANE Select	ENSP00000342800.5:p.Leu422=
ENST00000070846.10:c.1264_1266delinsTTA	ENSP00000070846.6:p.Leu422=
ENST00000340811.8:c.1264_1266delinsTTA	ENSP00000342800.4:p.Leu422=
ENST00000613243.1:c.1264_1266delinsTTA	ENSP00000478295.1:p.Leu422=
NM_001005242.2:c.1264_1266delinsTTA	NP_001005242.2:p.Leu422=
NM_004572.3:c.1264_1266delinsTTA , LRG_398t1:c.1264_1266delinsTTA	NP_004563.2:p.Leu422=
NM_001005242.3:c.1264_1266delinsTTA MANE Select	NP_001005242.2:p.Leu422=
NM_004572.4:c.1264_1266delinsTTA	NP_004563.2:p.Leu422=