Canonical Allele Identifier: CA185985
Gene: PRRT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 183020
ClinVar RCV Id: RCV000161142 RCV001553390
dbSNP Id: rs730882124
gnomAD v4: 16-29813703-CG-C
MyVariant Identifiers: chr16:g.29825025del (hg19) chr16:g.29813704del (hg38)
PubMed: PMID:9579893 PMID:12953268 PMID:24928127
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.29813704del , CM000678.2:g.29813704del GRCh38
NC_000016.9:g.29825025del , CM000678.1:g.29825025del GRCh37
NC_000016.8:g.29732526del NCBI36
NG_032039.1:g.6617del

Transcript Alleles

HGVS Amino-acid change
ENST00000358758.12:c.650del MANE Select ENSP00000351608.7:p.Arg217GlnfsTer12
ENST00000567551.2:c.339+311del ENSP00000489813.1:n.339+311del
ENST00000636019.1:n.106del
ENST00000636131.1:c.650del ENSP00000490390.1:p.Arg217GlnfsTer12
ENST00000636619.1:c.650del ENSP00000489669.1:p.Arg217GlnfsTer12
ENST00000637064.1:c.650del ENSP00000490826.1:p.Arg217GlnfsTer12
ENST00000637290.1:c.358del ENSP00000490278.1:p.Glu120SerfsTer7
ENST00000637403.1:c.650del ENSP00000489782.1:p.Arg217GlnfsTer12
ENST00000637565.1:c.339+311del ENSP00000490207.1:n.339+311del
ENST00000647876.1:c.650del ENSP00000498021.1:p.Arg217GlnfsTer12
ENST00000300797.7:c.650del ENSP00000300797.6:p.Arg217GlnfsTer12
ENST00000358758.11:c.650del ENSP00000351608.7:p.Arg217GlnfsTer12
ENST00000567551.1:n.471del
ENST00000567659.3:c.650del ENSP00000456226.1:p.Arg217GlnfsTer12
ENST00000572820.2:c.650del ENSP00000458291.2:p.Arg217GlnfsTer12
ENST00000609618.2:c.650del ENSP00000476774.2:p.Arg217GlnfsTer12
NM_001256442.1:c.650del NP_001243371.1:p.Arg217GlnfsTer12
NM_001256443.1:c.650del NP_001243372.1:p.Arg217GlnfsTer12
NM_145239.2:c.650del NP_660282.2:p.Arg217GlnfsTer12
XM_011545715.1:c.650del XP_011544017.1:p.Arg217GlnfsTer12
XM_011545716.1:c.650del XP_011544018.1:p.Arg217GlnfsTer12
XM_011545717.1:c.650del XP_011544019.1:p.Arg217GlnfsTer12
XM_011545718.1:c.650del XP_011544020.1:p.Arg217GlnfsTer12
XM_011545715.3:c.650del XP_011544017.1:p.Arg217GlnfsTer12
XM_017022887.2:c.650del XP_016878376.1:p.Arg217GlnfsTer12
XM_017022888.2:c.650del XP_016878377.1:p.Arg217GlnfsTer12
XM_017022889.2:c.650del XP_016878378.1:p.Arg217GlnfsTer12
NM_145239.3:c.650del MANE Select NP_660282.2:p.Arg217GlnfsTer12
NM_001256442.2:c.650del NP_001243371.1:p.Arg217GlnfsTer12
NM_001256443.2:c.650del NP_001243372.1:p.Arg217GlnfsTer12
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