Canonical Allele Identifier: CA011118

Gene: PKP2

Linked Data

• ClinVar Variation Id: 202017
• ClinVar RCV Id: RCV000183788 ; RCV002516934
• dbSNP Id: rs794729125
• MyVariant Identifiers: chr12:g.32994110_32994119del (hg19) ; chr12:g.32841176_32841185del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841178_32841187del , CM000674.2:g.32841178_32841187del	GRCh38
NC_000012.11:g.32994112_32994121del , CM000674.1:g.32994112_32994121del	GRCh37
NC_000012.10:g.32885379_32885388del	NCBI36
NG_009000.1:g.60662_60671del , LRG_398:g.60662_60671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1399_1408del	ENSP00000515065.2:p.Ser467AsnfsTer6
ENST00000700563.2:c.1399_1408del	ENSP00000515066.2:p.Ser467AsnfsTer6
ENST00000700559.1:c.614_623del
ENST00000700560.1:n.614_623del
ENST00000700561.1:n.740_749del
ENST00000700563.1:c.1353_1362del
ENST00000700564.1:n.1403_1412del
ENST00000700565.1:n.1252_1261del
ENST00000070846.11:c.1531_1540del	ENSP00000070846.6:p.Ser511AsnfsTer6
ENST00000340811.9:c.1399_1408del MANE Select	ENSP00000342800.5:p.Ser467AsnfsTer6
ENST00000070846.10:c.1531_1540del	ENSP00000070846.6:p.Ser511AsnfsTer6
ENST00000340811.8:c.1399_1408del	ENSP00000342800.4:p.Ser467AsnfsTer6
ENST00000613243.1:c.1531_1540del	ENSP00000478295.1:p.Ser511AsnfsTer6
NM_001005242.2:c.1399_1408del	NP_001005242.2:p.Ser467AsnfsTer6
NM_004572.3:c.1531_1540del , LRG_398t1:c.1531_1540del	NP_004563.2:p.Ser511AsnfsTer6
NM_001005242.3:c.1399_1408del MANE Select	NP_001005242.2:p.Ser467AsnfsTer6
NM_004572.4:c.1531_1540del	NP_004563.2:p.Ser511AsnfsTer6