Canonical Allele Identifier: CA913188468

Gene: PKP2

Linked Data

• ClinVar Variation Id: 919177
• ClinVar RCV Id: RCV001177186
• dbSNP Id: rs1956873853

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868969dup , CM000674.2:g.32868969dup	GRCh38
NC_000012.11:g.33021903dup , CM000674.1:g.33021903dup	GRCh37
NC_000012.10:g.32913170dup	NCBI36
NG_009000.1:g.32878dup , LRG_398:g.32878dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1128dup	ENSP00000515065.2:p.Ile377HisfsTer10
ENST00000700563.2:c.1128dup	ENSP00000515066.2:p.Ile377HisfsTer10
ENST00000700559.1:c.343dup
ENST00000700560.1:n.343dup
ENST00000700561.1:n.469dup
ENST00000700563.1:c.1082dup
ENST00000700564.1:n.1132dup
ENST00000700565.1:n.981dup
ENST00000070846.11:c.1128dup	ENSP00000070846.6:p.Ile377HisfsTer10
ENST00000340811.9:c.1128dup MANE Select	ENSP00000342800.5:p.Ile377HisfsTer10
ENST00000070846.10:c.1128dup	ENSP00000070846.6:p.Ile377HisfsTer10
ENST00000340811.8:c.1128dup	ENSP00000342800.4:p.Ile377HisfsTer10
ENST00000613243.1:c.1128dup	ENSP00000478295.1:p.Ile377HisfsTer10
NM_001005242.2:c.1128dup	NP_001005242.2:p.Ile377HisfsTer10
NM_004572.3:c.1128dup , LRG_398t1:c.1128dup	NP_004563.2:p.Ile377HisfsTer10
NM_001005242.3:c.1128dup MANE Select	NP_001005242.2:p.Ile377HisfsTer10
NM_004572.4:c.1128dup	NP_004563.2:p.Ile377HisfsTer10