Canonical Allele Identifier: CA919057868
Gene: PKP2 HGNC NCBI

Linked Data

dbSNP Id: rs1592726706

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796634_32796635insAG , CM000674.2:g.32796634_32796635insAG GRCh38
NC_000012.11:g.32949568_32949569insAG , CM000674.1:g.32949568_32949569insAG GRCh37
NC_000012.10:g.32840835_32840836insAG NCBI36
NG_009000.1:g.105212_105213insCT , LRG_398:g.105212_105213insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.671-337_671-336insCT
ENST00000700557.2:n.260-337_260-336insCT
ENST00000700559.2:c.2168-3904_2168-3903insCT ENSP00000515065.2:n.2168-3904_2168-3903insCT
ENST00000546498.2:n.855-337_855-336insCT
ENST00000549461.2:n.660-337_660-336insCT
ENST00000700555.1:c.599-337_599-336insCT ENSP00000515062.1:n.599-337_599-336insCT
ENST00000700556.1:c.639-337_639-336insCT
ENST00000700557.1:c.179-337_179-336insCT ENSP00000515064.1:n.179-337_179-336insCT
ENST00000700558.1:n.382-337_382-336insCT
ENST00000700559.1:c.1383-3904_1383-3903insCT
ENST00000700560.1:n.1383-337_1383-336insCT
ENST00000700561.1:n.1509-337_1509-336insCT
ENST00000070846.11:c.2300-337_2300-336insCT ENSP00000070846.6:n.2300-337_2300-336insCT
ENST00000340811.9:c.2168-337_2168-336insCT MANE Select ENSP00000342800.5:n.2168-337_2168-336insCT
ENST00000070846.10:c.2300-337_2300-336insCT ENSP00000070846.6:n.2300-337_2300-336insCT
ENST00000340811.8:c.2168-337_2168-336insCT ENSP00000342800.4:n.2168-337_2168-336insCT
ENST00000613243.1:c.2300-337_2300-336insCT ENSP00000478295.1:n.2300-337_2300-336insCT
NM_001005242.2:c.2168-337_2168-336insCT NP_001005242.2:n.2168-337_2168-336insCT
NM_004572.3:c.2300-337_2300-336insCT , LRG_398t1:c.2300-337_2300-336insCT NP_004563.2:n.2300-337_2300-336insCT
NM_001005242.3:c.2168-337_2168-336insCT MANE Select NP_001005242.2:n.2168-337_2168-336insCT
NM_004572.4:c.2300-337_2300-336insCT NP_004563.2:n.2300-337_2300-336insCT