Canonical Allele Identifier: CA891843481

Gene: PKP2

Linked Data

• ClinVar Variation Id: 572940
• ClinVar RCV Id: RCV000694463 ; RCV002422517
• MyVariant Identifiers: chr12:g.33031916_33033605del (hg19) ; chr12:g.32878982_32880671del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878982_32880671del , CM000674.2:g.32878982_32880671del	GRCh38
NC_000012.11:g.33031916_33033605del , CM000674.1:g.33031916_33033605del	GRCh37
NC_000012.10:g.32923183_32924872del	NCBI36
NG_009000.1:g.21176_22865del , LRG_398:g.21176_22865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.224-1639_274del
ENST00000700563.2:c.224-1639_274del
ENST00000700563.1:c.178-1639_228del
ENST00000700564.1:n.228-1639_278del
ENST00000700565.1:n.77-1639_127del
ENST00000070846.11:c.224-1639_274del
ENST00000340811.9:c.224-1639_274del
ENST00000070846.10:c.224-1639_274del
ENST00000340811.8:c.224-1639_274del
ENST00000613243.1:c.224-1639_274del
NM_001005242.2:c.224-1639_274del
NM_004572.3:c.224-1639_274del , LRG_398t1:c.224-1639_274del
NM_001005242.3:c.224-1639_274del
NM_004572.4:c.224-1639_274del