Canonical Allele Identifier: CA16619519
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423117
ClinVar RCV Id: RCV000482633
dbSNP Id: rs1064796241
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32868983_32868985delinsAA , CM000674.2:g.32868983_32868985delinsAA GRCh38
NC_000012.11:g.33021917_33021919delinsAA , CM000674.1:g.33021917_33021919delinsAA GRCh37
NC_000012.10:g.32913184_32913186delinsAA NCBI36
NG_009000.1:g.32862_32864delinsTT , LRG_398:g.32862_32864delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000700559.2:c.1112_1114delinsTT ENSP00000515065.2:p.Ser371PhefsTer?
ENST00000700563.2:c.1112_1114delinsTT ENSP00000515066.2:p.Ser371PhefsTer?
ENST00000700559.1:c.327_329delinsTT
ENST00000700560.1:n.327_329delinsTT
ENST00000700561.1:n.453_455delinsTT
ENST00000700563.1:c.1066_1068delinsTT
ENST00000700564.1:n.1116_1118delinsTT
ENST00000700565.1:n.965_967delinsTT
ENST00000070846.11:c.1112_1114delinsTT ENSP00000070846.6:p.Ser371PhefsTer?
ENST00000340811.9:c.1112_1114delinsTT MANE Select ENSP00000342800.5:p.Ser371PhefsTer?
ENST00000070846.10:c.1112_1114delinsTT ENSP00000070846.6:p.Ser371PhefsTer?
ENST00000340811.8:c.1112_1114delinsTT ENSP00000342800.4:p.Ser371PhefsTer?
ENST00000613243.1:c.1112_1114delinsTT ENSP00000478295.1:p.Ser371PhefsTer?
NM_001005242.2:c.1112_1114delinsTT NP_001005242.2:p.Ser371PhefsTer?
NM_004572.3:c.1112_1114delinsTT , LRG_398t1:c.1112_1114delinsTT NP_004563.2:p.Ser371PhefsTer?
NM_001005242.3:c.1112_1114delinsTT MANE Select NP_001005242.2:p.Ser371PhefsTer?
NM_004572.4:c.1112_1114delinsTT NP_004563.2:p.Ser371PhefsTer?
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