Canonical Allele Identifier: CA2026373810

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841175_32841185delinsTTGTCATTAGA , CM000674.2:g.32841175_32841185delinsTTGTCATTAGA	GRCh38
NC_000012.11:g.32994109_32994119delinsTTGTCATTAGA , CM000674.1:g.32994109_32994119delinsTTGTCATTAGA	GRCh37
NC_000012.10:g.32885376_32885386delinsTTGTCATTAGA	NCBI36
NG_009000.1:g.60662_60672delinsTCTAATGACAA , LRG_398:g.60662_60672delinsTCTAATGACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1399_1409delinsTCTAATGACAA	ENSP00000515065.2:p.Ser467=
ENST00000700563.2:c.1399_1409delinsTCTAATGACAA	ENSP00000515066.2:p.Ser467=
ENST00000700559.1:c.614_624delinsTCTAATGACAA
ENST00000700560.1:n.614_624delinsTCTAATGACAA
ENST00000700561.1:n.740_750delinsTCTAATGACAA
ENST00000700563.1:c.1353_1363delinsTCTAATGACAA
ENST00000700564.1:n.1403_1413delinsTCTAATGACAA
ENST00000700565.1:n.1252_1262delinsTCTAATGACAA
ENST00000070846.11:c.1531_1541delinsTCTAATGACAA	ENSP00000070846.6:p.Ser511=
ENST00000340811.9:c.1399_1409delinsTCTAATGACAA MANE Select	ENSP00000342800.5:p.Ser467=
ENST00000070846.10:c.1531_1541delinsTCTAATGACAA	ENSP00000070846.6:p.Ser511=
ENST00000340811.8:c.1399_1409delinsTCTAATGACAA	ENSP00000342800.4:p.Ser467=
ENST00000613243.1:c.1531_1541delinsTCTAATGACAA	ENSP00000478295.1:p.Ser511=
NM_001005242.2:c.1399_1409delinsTCTAATGACAA	NP_001005242.2:p.Ser467=
NM_004572.3:c.1531_1541delinsTCTAATGACAA , LRG_398t1:c.1531_1541delinsTCTAATGACAA	NP_004563.2:p.Ser511=
NM_001005242.3:c.1399_1409delinsTCTAATGACAA MANE Select	NP_001005242.2:p.Ser467=
NM_004572.4:c.1531_1541delinsTCTAATGACAA	NP_004563.2:p.Ser511=