Canonical Allele Identifier: CA2026360197
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796199T= , CM000674.2:g.32796199T= GRCh38
NC_000012.11:g.32949133T= , CM000674.1:g.32949133T= GRCh37
NC_000012.10:g.32840400T= NCBI36
NG_009000.1:g.105648A= , LRG_398:g.105648A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.770A=
ENST00000700557.2:n.359A=
ENST00000700559.2:c.2168-3468A= ENSP00000515065.2:n.2168-3468A=
ENST00000546498.2:n.954A=
ENST00000549461.2:n.759A=
ENST00000700555.1:c.698A= ENSP00000515062.1:p.Asn233=
ENST00000700556.1:c.738A=
ENST00000700557.1:c.278A= ENSP00000515064.1:p.Asn93=
ENST00000700558.1:n.481A=
ENST00000700559.1:c.1383-3468A=
ENST00000700560.1:n.1482A=
ENST00000700561.1:n.1608A=
ENST00000070846.11:c.2399A= ENSP00000070846.6:p.Asn800=
ENST00000340811.9:c.2267A= MANE Select ENSP00000342800.5:p.Asn756=
ENST00000070846.10:c.2399A= ENSP00000070846.6:p.Asn800=
ENST00000340811.8:c.2267A= ENSP00000342800.4:p.Asn756=
ENST00000613243.1:c.2399A= ENSP00000478295.1:p.Asn800=
NM_001005242.2:c.2267A= NP_001005242.2:p.Asn756=
NM_004572.3:c.2399A= , LRG_398t1:c.2399A= NP_004563.2:p.Asn800=
NM_001005242.3:c.2267A= MANE Select NP_001005242.2:p.Asn756=
NM_004572.4:c.2399A= NP_004563.2:p.Asn800=