Canonical Allele Identifier: CA2618223003
Gene: PKP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796419G>A , CM000674.2:g.32796419G>A GRCh38
NC_000012.11:g.32949353G>A , CM000674.1:g.32949353G>A GRCh37
NC_000012.10:g.32840620G>A NCBI36
NG_009000.1:g.105428C>T , LRG_398:g.105428C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.671-121C>T
ENST00000700557.2:n.260-121C>T
ENST00000700559.2:c.2168-3688C>T ENSP00000515065.2:n.2168-3688C>T
ENST00000546498.2:n.855-121C>T
ENST00000549461.2:n.660-121C>T
ENST00000700555.1:c.599-121C>T ENSP00000515062.1:n.599-121C>T
ENST00000700556.1:c.639-121C>T
ENST00000700557.1:c.179-121C>T ENSP00000515064.1:n.179-121C>T
ENST00000700558.1:n.382-121C>T
ENST00000700559.1:c.1383-3688C>T
ENST00000700560.1:n.1383-121C>T
ENST00000700561.1:n.1509-121C>T
ENST00000070846.11:c.2300-121C>T ENSP00000070846.6:n.2300-121C>T
ENST00000340811.9:c.2168-121C>T MANE Select ENSP00000342800.5:n.2168-121C>T
ENST00000070846.10:c.2300-121C>T ENSP00000070846.6:n.2300-121C>T
ENST00000340811.8:c.2168-121C>T ENSP00000342800.4:n.2168-121C>T
ENST00000613243.1:c.2300-121C>T ENSP00000478295.1:n.2300-121C>T
NM_001005242.2:c.2168-121C>T NP_001005242.2:n.2168-121C>T
NM_004572.3:c.2300-121C>T , LRG_398t1:c.2300-121C>T NP_004563.2:n.2300-121C>T
NM_001005242.3:c.2168-121C>T MANE Select NP_001005242.2:n.2168-121C>T
NM_004572.4:c.2300-121C>T NP_004563.2:n.2300-121C>T