Canonical Allele Identifier: CA2026398753
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32824168_32824169delinsAG , CM000674.2:g.32824168_32824169delinsAG GRCh38
NC_000012.11:g.32977102_32977103delinsAG , CM000674.1:g.32977102_32977103delinsAG GRCh37
NC_000012.10:g.32868369_32868370delinsAG NCBI36
NG_009000.1:g.77678_77679delinsCT , LRG_398:g.77678_77679delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.69-7_69-6delinsCT
ENST00000700559.2:c.1557-7_1557-6delinsCT ENSP00000515065.2:n.1557-7_1557-6delinsCT
ENST00000700563.2:c.1557-7_1557-6delinsCT ENSP00000515066.2:n.1557-7_1557-6delinsCT
ENST00000546498.2:n.237_238delinsCT
ENST00000700555.1:c.-4-7_-4-6delinsCT ENSP00000515062.1:n.-4-7_-4-6delinsCT
ENST00000700556.1:c.28-7_28-6delinsCT
ENST00000700559.1:c.772-7_772-6delinsCT
ENST00000700560.1:n.772-7_772-6delinsCT
ENST00000700561.1:n.898-7_898-6delinsCT
ENST00000700563.1:c.1511-7_1511-6delinsCT
ENST00000700564.1:n.1561-7_1561-6delinsCT
ENST00000070846.11:c.1689-7_1689-6delinsCT ENSP00000070846.6:n.1689-7_1689-6delinsCT
ENST00000340811.9:c.1557-7_1557-6delinsCT MANE Select ENSP00000342800.5:n.1557-7_1557-6delinsCT
ENST00000070846.10:c.1689-7_1689-6delinsCT ENSP00000070846.6:n.1689-7_1689-6delinsCT
ENST00000340811.8:c.1557-7_1557-6delinsCT ENSP00000342800.4:n.1557-7_1557-6delinsCT
ENST00000546498.1:n.237_238delinsCT
ENST00000613243.1:c.1689-7_1689-6delinsCT ENSP00000478295.1:n.1689-7_1689-6delinsCT
NM_001005242.2:c.1557-7_1557-6delinsCT NP_001005242.2:n.1557-7_1557-6delinsCT
NM_004572.3:c.1689-7_1689-6delinsCT , LRG_398t1:c.1689-7_1689-6delinsCT NP_004563.2:n.1689-7_1689-6delinsCT
NM_001005242.3:c.1557-7_1557-6delinsCT MANE Select NP_001005242.2:n.1557-7_1557-6delinsCT
NM_004572.4:c.1689-7_1689-6delinsCT NP_004563.2:n.1689-7_1689-6delinsCT