Canonical Allele Identifier: CA2026359934
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796128C= , CM000674.2:g.32796128C= GRCh38
NC_000012.11:g.32949062C= , CM000674.1:g.32949062C= GRCh37
NC_000012.10:g.32840329C= NCBI36
NG_009000.1:g.105719G= , LRG_398:g.105719G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.841G=
ENST00000700557.2:n.430G=
ENST00000700559.2:c.2168-3397G= ENSP00000515065.2:n.2168-3397G=
ENST00000546498.2:n.1025G=
ENST00000549461.2:n.830G=
ENST00000700555.1:c.769G= ENSP00000515062.1:p.Ala257=
ENST00000700556.1:c.809G=
ENST00000700557.1:c.349G= ENSP00000515064.1:p.Ala117=
ENST00000700558.1:n.552G=
ENST00000700559.1:c.1383-3397G=
ENST00000700560.1:n.1553G=
ENST00000700561.1:n.1679G=
ENST00000070846.11:c.2470G= ENSP00000070846.6:p.Ala824=
ENST00000340811.9:c.2338G= MANE Select ENSP00000342800.5:p.Ala780=
ENST00000070846.10:c.2470G= ENSP00000070846.6:p.Ala824=
ENST00000340811.8:c.2338G= ENSP00000342800.4:p.Ala780=
ENST00000613243.1:c.2468G= ENSP00000478295.1:p.Gly823=
NM_001005242.2:c.2338G= NP_001005242.2:p.Ala780=
NM_004572.3:c.2470G= , LRG_398t1:c.2470G= NP_004563.2:p.Ala824=
NM_001005242.3:c.2338G= MANE Select NP_001005242.2:p.Ala780=
NM_004572.4:c.2470G= NP_004563.2:p.Ala824=