Canonical Allele Identifier: CA2026342945

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32869066_32869070delinsGACAA , CM000674.2:g.32869066_32869070delinsGACAA	GRCh38
NC_000012.11:g.33022000_33022004delinsGACAA , CM000674.1:g.33022000_33022004delinsGACAA	GRCh37
NC_000012.10:g.32913267_32913271delinsGACAA	NCBI36
NG_009000.1:g.32777_32781delinsTTGTC , LRG_398:g.32777_32781delinsTTGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1035-8_1035-4delinsTTGTC	ENSP00000515065.2:n.1035-8_1035-4delinsTTGTC
ENST00000700563.2:c.1035-8_1035-4delinsTTGTC	ENSP00000515066.2:n.1035-8_1035-4delinsTTGTC
ENST00000700559.1:c.250-8_250-4delinsTTGTC
ENST00000700560.1:n.250-8_250-4delinsTTGTC
ENST00000700561.1:n.376-8_376-4delinsTTGTC
ENST00000700563.1:c.989-8_989-4delinsTTGTC
ENST00000700564.1:n.1039-8_1039-4delinsTTGTC
ENST00000700565.1:n.888-8_888-4delinsTTGTC
ENST00000070846.11:c.1035-8_1035-4delinsTTGTC	ENSP00000070846.6:n.1035-8_1035-4delinsTTGTC
ENST00000340811.9:c.1035-8_1035-4delinsTTGTC MANE Select	ENSP00000342800.5:n.1035-8_1035-4delinsTTGTC
ENST00000070846.10:c.1035-8_1035-4delinsTTGTC	ENSP00000070846.6:n.1035-8_1035-4delinsTTGTC
ENST00000340811.8:c.1035-8_1035-4delinsTTGTC	ENSP00000342800.4:n.1035-8_1035-4delinsTTGTC
ENST00000613243.1:c.1035-8_1035-4delinsTTGTC	ENSP00000478295.1:n.1035-8_1035-4delinsTTGTC
NM_001005242.2:c.1035-8_1035-4delinsTTGTC	NP_001005242.2:n.1035-8_1035-4delinsTTGTC
NM_004572.3:c.1035-8_1035-4delinsTTGTC , LRG_398t1:c.1035-8_1035-4delinsTTGTC	NP_004563.2:n.1035-8_1035-4delinsTTGTC
NM_001005242.3:c.1035-8_1035-4delinsTTGTC MANE Select	NP_001005242.2:n.1035-8_1035-4delinsTTGTC
NM_004572.4:c.1035-8_1035-4delinsTTGTC	NP_004563.2:n.1035-8_1035-4delinsTTGTC