Canonical Allele Identifier: CA2618223125

Gene: PKP2

Linked Data

• gnomAD v4: 12-32802536-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802537dup , CM000674.2:g.32802537dup	GRCh38
NC_000012.11:g.32955471dup , CM000674.1:g.32955471dup	GRCh37
NC_000012.10:g.32846738dup	NCBI36
NG_009000.1:g.99310dup , LRG_398:g.99310dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.536dup
ENST00000700557.2:n.125dup
ENST00000700559.2:c.2033dup	ENSP00000515065.2:p.Thr679AspfsTer20
ENST00000546498.2:n.720dup
ENST00000549461.2:n.572dup
ENST00000700555.1:c.464dup	ENSP00000515062.1:p.Thr156AspfsTer20
ENST00000700556.1:c.504dup
ENST00000700557.1:c.44dup	ENSP00000515064.1:p.Thr16AspfsTer20
ENST00000700558.1:n.247dup
ENST00000700559.1:c.1248dup
ENST00000700560.1:n.1248dup
ENST00000700561.1:n.1374dup
ENST00000070846.11:c.2165dup	ENSP00000070846.6:p.Thr723AspfsTer20
ENST00000340811.9:c.2033dup MANE Select	ENSP00000342800.5:p.Thr679AspfsTer20
ENST00000070846.10:c.2165dup	ENSP00000070846.6:p.Thr723AspfsTer20
ENST00000340811.8:c.2033dup	ENSP00000342800.4:p.Thr679AspfsTer20
ENST00000549461.1:n.479dup
ENST00000613243.1:c.2165dup	ENSP00000478295.1:p.Thr723AspfsTer20
NM_001005242.2:c.2033dup	NP_001005242.2:p.Thr679AspfsTer20
NM_004572.3:c.2165dup , LRG_398t1:c.2165dup	NP_004563.2:p.Thr723AspfsTer20
NM_001005242.3:c.2033dup MANE Select	NP_001005242.2:p.Thr679AspfsTer20
NM_004572.4:c.2165dup	NP_004563.2:p.Thr723AspfsTer20