Canonical Allele Identifier: CA2026342724

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868964_32868972delinsTGTATGAAA , CM000674.2:g.32868964_32868972delinsTGTATGAAA	GRCh38
NC_000012.11:g.33021898_33021906delinsTGTATGAAA , CM000674.1:g.33021898_33021906delinsTGTATGAAA	GRCh37
NC_000012.10:g.32913165_32913173delinsTGTATGAAA	NCBI36
NG_009000.1:g.32875_32883delinsTTTCATACA , LRG_398:g.32875_32883delinsTTTCATACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1125_1133delinsTTTCATACA	ENSP00000515065.2:p.Thr375=
ENST00000700563.2:c.1125_1133delinsTTTCATACA	ENSP00000515066.2:p.Thr375=
ENST00000700559.1:c.340_348delinsTTTCATACA
ENST00000700560.1:n.340_348delinsTTTCATACA
ENST00000700561.1:n.466_474delinsTTTCATACA
ENST00000700563.1:c.1079_1087delinsTTTCATACA
ENST00000700564.1:n.1129_1137delinsTTTCATACA
ENST00000700565.1:n.978_986delinsTTTCATACA
ENST00000070846.11:c.1125_1133delinsTTTCATACA	ENSP00000070846.6:p.Thr375=
ENST00000340811.9:c.1125_1133delinsTTTCATACA MANE Select	ENSP00000342800.5:p.Thr375=
ENST00000070846.10:c.1125_1133delinsTTTCATACA	ENSP00000070846.6:p.Thr375=
ENST00000340811.8:c.1125_1133delinsTTTCATACA	ENSP00000342800.4:p.Thr375=
ENST00000613243.1:c.1125_1133delinsTTTCATACA	ENSP00000478295.1:p.Thr375=
NM_001005242.2:c.1125_1133delinsTTTCATACA	NP_001005242.2:p.Thr375=
NM_004572.3:c.1125_1133delinsTTTCATACA , LRG_398t1:c.1125_1133delinsTTTCATACA	NP_004563.2:p.Thr375=
NM_001005242.3:c.1125_1133delinsTTTCATACA MANE Select	NP_001005242.2:p.Thr375=
NM_004572.4:c.1125_1133delinsTTTCATACA	NP_004563.2:p.Thr375=