Canonical Allele Identifier: CA687431092

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2043751
• ClinVar RCV Id: RCV002913224
• dbSNP Id: rs1369810529
• MyVariant Identifiers: chr12:g.32949202_32949207del (hg19) ; chr12:g.32796268_32796273del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796269_32796274del , CM000674.2:g.32796269_32796274del	GRCh38
NC_000012.11:g.32949203_32949208del , CM000674.1:g.32949203_32949208del	GRCh37
NC_000012.10:g.32840470_32840475del	NCBI36
NG_009000.1:g.105574_105579del , LRG_398:g.105574_105579del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.696_701del
ENST00000700557.2:n.285_290del
ENST00000700559.2:c.2168-3542_2168-3537del	ENSP00000515065.2:n.2168-3542_2168-3537de...
ENST00000546498.2:n.880_885del
ENST00000549461.2:n.685_690del
ENST00000700555.1:c.624_629del	ENSP00000515062.1:p.Ser209_Ile210del
ENST00000700556.1:c.664_669del
ENST00000700557.1:c.204_209del	ENSP00000515064.1:p.Ser69_Ile70del
ENST00000700558.1:n.407_412del
ENST00000700559.1:c.1383-3542_1383-3537del
ENST00000700560.1:n.1408_1413del
ENST00000700561.1:n.1534_1539del
ENST00000070846.11:c.2325_2330del	ENSP00000070846.6:p.Ser776_Ile777del
ENST00000340811.9:c.2193_2198del MANE Select	ENSP00000342800.5:p.Ser732_Ile733del
ENST00000070846.10:c.2325_2330del	ENSP00000070846.6:p.Ser776_Ile777del
ENST00000340811.8:c.2193_2198del	ENSP00000342800.4:p.Ser732_Ile733del
ENST00000613243.1:c.2325_2330del	ENSP00000478295.1:p.Ser776_Ile777del
NM_001005242.2:c.2193_2198del	NP_001005242.2:p.Ser732_Ile733del
NM_004572.3:c.2325_2330del , LRG_398t1:c.2325_2330del	NP_004563.2:p.Ser776_Ile777del
NM_001005242.3:c.2193_2198del MANE Select	NP_001005242.2:p.Ser732_Ile733del
NM_004572.4:c.2325_2330del	NP_004563.2:p.Ser776_Ile777del