Canonical Allele Identifier: CA2795079936
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796418dup , CM000674.2:g.32796418dup GRCh38
NC_000012.11:g.32949352dup , CM000674.1:g.32949352dup GRCh37
NC_000012.10:g.32840619dup NCBI36
NG_009000.1:g.105429dup , LRG_398:g.105429dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.671-120dup
ENST00000700557.2:n.260-120dup
ENST00000700559.2:c.2168-3687dup ENSP00000515065.2:n.2168-3687dup
ENST00000546498.2:n.855-120dup
ENST00000549461.2:n.660-120dup
ENST00000700555.1:c.599-120dup ENSP00000515062.1:n.599-120dup
ENST00000700556.1:c.639-120dup
ENST00000700557.1:c.179-120dup ENSP00000515064.1:n.179-120dup
ENST00000700558.1:n.382-120dup
ENST00000700559.1:c.1383-3687dup
ENST00000700560.1:n.1383-120dup
ENST00000700561.1:n.1509-120dup
ENST00000070846.11:c.2300-120dup ENSP00000070846.6:n.2300-120dup
ENST00000340811.9:c.2168-120dup MANE Select ENSP00000342800.5:n.2168-120dup
ENST00000070846.10:c.2300-120dup ENSP00000070846.6:n.2300-120dup
ENST00000340811.8:c.2168-120dup ENSP00000342800.4:n.2168-120dup
ENST00000613243.1:c.2300-120dup ENSP00000478295.1:n.2300-120dup
NM_001005242.2:c.2168-120dup NP_001005242.2:n.2168-120dup
NM_004572.3:c.2300-120dup , LRG_398t1:c.2300-120dup NP_004563.2:n.2300-120dup
NM_001005242.3:c.2168-120dup MANE Select NP_001005242.2:n.2168-120dup
NM_004572.4:c.2300-120dup NP_004563.2:n.2300-120dup