Canonical Allele Identifier: CA16619516

Gene: PKP2

Linked Data

• ClinVar Variation Id: 423349
• ClinVar RCV Id: RCV000484299 ; RCV000769390 ; RCV002413336
• dbSNP Id: rs1555142963
• gnomAD v4: 12-32822476-TTTCCTGCTTCGACTGCCAAAACA-T
• MyVariant Identifiers: chr12:g.32975411_32975433del (hg19) ; chr12:g.32822477_32822499del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822478_32822500del , CM000674.2:g.32822478_32822500del	GRCh38
NC_000012.11:g.32975412_32975434del , CM000674.1:g.32975412_32975434del	GRCh37
NC_000012.10:g.32866679_32866701del	NCBI36
NG_009000.1:g.79348_79370del , LRG_398:g.79348_79370del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.319_341del
ENST00000700559.2:c.1807_1829del	ENSP00000515065.2:p.Cys603SerfsTer?
ENST00000700563.2:c.1807_1829del	ENSP00000515066.2:p.Cys603SerfsTer?
ENST00000546498.2:n.494_516del
ENST00000700555.1:c.247_269del	ENSP00000515062.1:p.Cys83ThrfsTer?
ENST00000700556.1:c.278_300del
ENST00000700559.1:c.1022_1044del
ENST00000700560.1:n.1022_1044del
ENST00000700561.1:n.1148_1170del
ENST00000700563.1:c.1761_1783del
ENST00000700564.1:n.1811_1833del
ENST00000070846.11:c.1939_1961del	ENSP00000070846.6:p.Cys647SerfsTer?
ENST00000340811.9:c.1807_1829del MANE Select	ENSP00000342800.5:p.Cys603SerfsTer?
ENST00000070846.10:c.1939_1961del	ENSP00000070846.6:p.Cys647SerfsTer?
ENST00000340811.8:c.1807_1829del	ENSP00000342800.4:p.Cys603SerfsTer?
ENST00000546498.1:n.494_516del
ENST00000552612.5:n.228_250del
ENST00000613243.1:c.1939_1961del	ENSP00000478295.1:p.Cys647SerfsTer?
NM_001005242.2:c.1807_1829del	NP_001005242.2:p.Cys603SerfsTer?
NM_004572.3:c.1939_1961del , LRG_398t1:c.1939_1961del	NP_004563.2:p.Cys647SerfsTer?
NM_001005242.3:c.1807_1829del MANE Select	NP_001005242.2:p.Cys603SerfsTer?
NM_004572.4:c.1939_1961del	NP_004563.2:p.Cys647SerfsTer?