Canonical Allele Identifier: CA2618225974

Gene: PKP2

Linked Data

• gnomAD v4: 12-32841109-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841113dup , CM000674.2:g.32841113dup	GRCh38
NC_000012.11:g.32994047dup , CM000674.1:g.32994047dup	GRCh37
NC_000012.10:g.32885314dup	NCBI36
NG_009000.1:g.60737dup , LRG_398:g.60737dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1474dup	ENSP00000515065.2:p.Ser492PhefsTer5
ENST00000700563.2:c.1474dup	ENSP00000515066.2:p.Ser492PhefsTer5
ENST00000700559.1:c.689dup
ENST00000700560.1:n.689dup
ENST00000700561.1:n.815dup
ENST00000700563.1:c.1428dup
ENST00000700564.1:n.1478dup
ENST00000700565.1:n.1327dup
ENST00000070846.11:c.1606dup	ENSP00000070846.6:p.Ser536PhefsTer5
ENST00000340811.9:c.1474dup MANE Select	ENSP00000342800.5:p.Ser492PhefsTer5
ENST00000070846.10:c.1606dup	ENSP00000070846.6:p.Ser536PhefsTer5
ENST00000340811.8:c.1474dup	ENSP00000342800.4:p.Ser492PhefsTer5
ENST00000613243.1:c.1606dup	ENSP00000478295.1:p.Ser536PhefsTer5
NM_001005242.2:c.1474dup	NP_001005242.2:p.Ser492PhefsTer5
NM_004572.3:c.1606dup , LRG_398t1:c.1606dup	NP_004563.2:p.Ser536PhefsTer5
NM_001005242.3:c.1474dup MANE Select	NP_001005242.2:p.Ser492PhefsTer5
NM_004572.4:c.1606dup	NP_004563.2:p.Ser536PhefsTer5