Canonical Allele Identifier: CA130522
Gene: PRRT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39755
ClinVar RCV Id: RCV000032973
dbSNP Id: rs730882073

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.29813345del , CM000678.2:g.29813345del GRCh38
NC_000016.9:g.29824666del , CM000678.1:g.29824666del GRCh37
NC_000016.8:g.29732167del NCBI36
NG_032039.1:g.6258del

Transcript Alleles

HGVS Amino-acid change
ENST00000358758.12:c.291del MANE Select ENSP00000351608.7:p.Asn98ThrfsTer17
ENST00000567551.2:c.291del ENSP00000489813.1:p.Asn98ThrfsTer?
ENST00000636019.1:n.88-341del
ENST00000636131.1:c.291del ENSP00000490390.1:p.Asn98ThrfsTer17
ENST00000636246.1:c.291del ENSP00000489948.1:p.Asn98ThrfsTer17
ENST00000636619.1:c.291del ENSP00000489669.1:p.Asn98ThrfsTer17
ENST00000637064.1:c.291del ENSP00000490826.1:p.Asn98ThrfsTer17
ENST00000637290.1:c.291del ENSP00000490278.1:p.Asn98ThrfsTer29
ENST00000637403.1:c.291del ENSP00000489782.1:p.Asn98ThrfsTer17
ENST00000637565.1:c.291del ENSP00000490207.1:p.Asn98ThrfsTer?
ENST00000637596.1:c.291del ENSP00000489805.1:p.Asn98ThrfsTer17
ENST00000647876.1:c.291del ENSP00000498021.1:p.Asn98ThrfsTer17
ENST00000300797.7:c.291del ENSP00000300797.6:p.Asn98ThrfsTer17
ENST00000358758.11:c.291del ENSP00000351608.7:p.Asn98ThrfsTer17
ENST00000562148.2:c.291del ENSP00000454634.2:p.Asn98ThrfsTer?
ENST00000567551.1:n.404del
ENST00000567659.3:c.291del ENSP00000456226.1:p.Asn98ThrfsTer17
ENST00000572820.2:c.291del ENSP00000458291.2:p.Asn98ThrfsTer17
ENST00000609618.2:c.291del ENSP00000476774.2:p.Asn98ThrfsTer17
NM_001256442.1:c.291del NP_001243371.1:p.Asn98ThrfsTer17
NM_001256443.1:c.291del NP_001243372.1:p.Asn98ThrfsTer17
NM_145239.2:c.291del NP_660282.2:p.Asn98ThrfsTer17
XM_011545715.1:c.291del XP_011544017.1:p.Asn98ThrfsTer17
XM_011545716.1:c.291del XP_011544018.1:p.Asn98ThrfsTer17
XM_011545717.1:c.291del XP_011544019.1:p.Asn98ThrfsTer17
XM_011545718.1:c.291del XP_011544020.1:p.Asn98ThrfsTer17
XM_011545715.3:c.291del XP_011544017.1:p.Asn98ThrfsTer17
XM_017022887.2:c.291del XP_016878376.1:p.Asn98ThrfsTer17
XM_017022888.2:c.291del XP_016878377.1:p.Asn98ThrfsTer17
XM_017022889.2:c.291del XP_016878378.1:p.Asn98ThrfsTer17
NM_145239.3:c.291del MANE Select NP_660282.2:p.Asn98ThrfsTer17
NM_001256442.2:c.291del NP_001243371.1:p.Asn98ThrfsTer17
NM_001256443.2:c.291del NP_001243372.1:p.Asn98ThrfsTer17