Canonical Allele Identifier: CA2542571201
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32822882_32822883insTATC , CM000674.2:g.32822882_32822883insTATC GRCh38
NC_000012.11:g.32975816_32975817insTATC , CM000674.1:g.32975816_32975817insTATC GRCh37
NC_000012.10:g.32867083_32867084insTATC NCBI36
NG_009000.1:g.78964_78965insGATA , LRG_398:g.78964_78965insGATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.187-252_187-251insGATA
ENST00000700559.2:c.1675-252_1675-251insGATA ENSP00000515065.2:n.1675-252_1675-251insGATA
ENST00000700563.2:c.1675-252_1675-251insGATA ENSP00000515066.2:n.1675-252_1675-251insGATA
ENST00000546498.2:n.362-252_362-251insGATA
ENST00000700555.1:c.115-252_115-251insGATA ENSP00000515062.1:n.115-252_115-251insGATA
ENST00000700556.1:c.146-252_146-251insGATA
ENST00000700559.1:c.890-252_890-251insGATA
ENST00000700560.1:n.890-252_890-251insGATA
ENST00000700561.1:n.1016-252_1016-251insGATA
ENST00000700563.1:c.1629-252_1629-251insGATA
ENST00000700564.1:n.1679-252_1679-251insGATA
ENST00000070846.11:c.1807-252_1807-251insGATA ENSP00000070846.6:n.1807-252_1807-251insGATA
ENST00000340811.9:c.1675-252_1675-251insGATA MANE Select ENSP00000342800.5:n.1675-252_1675-251insGATA
ENST00000070846.10:c.1807-252_1807-251insGATA ENSP00000070846.6:n.1807-252_1807-251insGATA
ENST00000340811.8:c.1675-252_1675-251insGATA ENSP00000342800.4:n.1675-252_1675-251insGATA
ENST00000546498.1:n.362-252_362-251insGATA
ENST00000552612.5:n.96-252_96-251insGATA
ENST00000613243.1:c.1807-252_1807-251insGATA ENSP00000478295.1:n.1807-252_1807-251insGATA
NM_001005242.2:c.1675-252_1675-251insGATA NP_001005242.2:n.1675-252_1675-251insGATA
NM_004572.3:c.1807-252_1807-251insGATA , LRG_398t1:c.1807-252_1807-251insGATA NP_004563.2:n.1807-252_1807-251insGATA
NM_001005242.3:c.1675-252_1675-251insGATA MANE Select NP_001005242.2:n.1675-252_1675-251insGATA
NM_004572.4:c.1807-252_1807-251insGATA NP_004563.2:n.1807-252_1807-251insGATA