Canonical Allele Identifier: CA2026342764

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868982_32868985delinsGCAG , CM000674.2:g.32868982_32868985delinsGCAG	GRCh38
NC_000012.11:g.33021916_33021919delinsGCAG , CM000674.1:g.33021916_33021919delinsGCAG	GRCh37
NC_000012.10:g.32913183_32913186delinsGCAG	NCBI36
NG_009000.1:g.32862_32865delinsCTGC , LRG_398:g.32862_32865delinsCTGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1112_1115delinsCTGC	ENSP00000515065.2:p.Ser371=
ENST00000700563.2:c.1112_1115delinsCTGC	ENSP00000515066.2:p.Ser371=
ENST00000700559.1:c.327_330delinsCTGC
ENST00000700560.1:n.327_330delinsCTGC
ENST00000700561.1:n.453_456delinsCTGC
ENST00000700563.1:c.1066_1069delinsCTGC
ENST00000700564.1:n.1116_1119delinsCTGC
ENST00000700565.1:n.965_968delinsCTGC
ENST00000070846.11:c.1112_1115delinsCTGC	ENSP00000070846.6:p.Ser371=
ENST00000340811.9:c.1112_1115delinsCTGC MANE Select	ENSP00000342800.5:p.Ser371=
ENST00000070846.10:c.1112_1115delinsCTGC	ENSP00000070846.6:p.Ser371=
ENST00000340811.8:c.1112_1115delinsCTGC	ENSP00000342800.4:p.Ser371=
ENST00000613243.1:c.1112_1115delinsCTGC	ENSP00000478295.1:p.Ser371=
NM_001005242.2:c.1112_1115delinsCTGC	NP_001005242.2:p.Ser371=
NM_004572.3:c.1112_1115delinsCTGC , LRG_398t1:c.1112_1115delinsCTGC	NP_004563.2:p.Ser371=
NM_001005242.3:c.1112_1115delinsCTGC MANE Select	NP_001005242.2:p.Ser371=
NM_004572.4:c.1112_1115delinsCTGC	NP_004563.2:p.Ser371=