Canonical Allele Identifier: CA687466695

Gene: PKP2

Linked Data

• dbSNP Id: rs1218195575
• MyVariant Identifiers: chr12:g.33003455_33003456del (hg19) ; chr12:g.32850521_32850522del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850522_32850523del , CM000674.2:g.32850522_32850523del	GRCh38
NC_000012.11:g.33003456_33003457del , CM000674.1:g.33003456_33003457del	GRCh37
NC_000012.10:g.32894723_32894724del	NCBI36
NG_009000.1:g.51325_51326del , LRG_398:g.51325_51326del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1378+244_1378+245del	ENSP00000515065.2:n.1378+244_1378+245del
ENST00000700563.2:c.1378+244_1378+245del	ENSP00000515066.2:n.1378+244_1378+245del
ENST00000700559.1:c.593+244_593+245del
ENST00000700560.1:n.593+244_593+245del
ENST00000700561.1:n.719+244_719+245del
ENST00000700563.1:c.1332+244_1332+245del
ENST00000700564.1:n.1382+244_1382+245del
ENST00000700565.1:n.1231+244_1231+245del
ENST00000070846.11:c.1378+244_1378+245del	ENSP00000070846.6:n.1378+244_1378+245del
ENST00000340811.9:c.1378+244_1378+245del MANE Select	ENSP00000342800.5:n.1378+244_1378+245del
ENST00000070846.10:c.1378+244_1378+245del	ENSP00000070846.6:n.1378+244_1378+245del
ENST00000340811.8:c.1378+244_1378+245del	ENSP00000342800.4:n.1378+244_1378+245del
ENST00000613243.1:c.1378+244_1378+245del	ENSP00000478295.1:n.1378+244_1378+245del
NM_001005242.2:c.1378+244_1378+245del	NP_001005242.2:n.1378+244_1378+245del
NM_004572.3:c.1378+244_1378+245del , LRG_398t1:c.1378+244_1378+245del	NP_004563.2:n.1378+244_1378+245del
NM_001005242.3:c.1378+244_1378+245del MANE Select	NP_001005242.2:n.1378+244_1378+245del
NM_004572.4:c.1378+244_1378+245del	NP_004563.2:n.1378+244_1378+245del