Canonical Allele Identifier: CA259997
Gene: PRRT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 31169
ClinVar RCV Id: RCV000024167
dbSNP Id: rs730882065

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.29813564_29813567del , CM000678.2:g.29813564_29813567del GRCh38
NC_000016.9:g.29824885_29824888del , CM000678.1:g.29824885_29824888del GRCh37
NC_000016.8:g.29732386_29732389del NCBI36
NG_032039.1:g.6477_6480del

Transcript Alleles

HGVS Amino-acid change
ENST00000300797.7:c.510_513del ENSP00000300797.6:p.Ser172ArgfsTer3
ENST00000358758.11:c.510_513del ENSP00000351608.7:p.Ser172ArgfsTer3
ENST00000567659.3:c.510_513del ENSP00000456226.1:p.Ser172ArgfsTer3
ENST00000572820.2:c.510_513del ENSP00000458291.2:p.Ser172ArgfsTer3
ENST00000609618.2:c.510_513del ENSP00000476774.2:p.Ser172ArgfsTer3
NM_001256442.1:c.510_513del NP_001243371.1:p.Ser172ArgfsTer3
NM_001256443.1:c.510_513del NP_001243372.1:p.Ser172ArgfsTer3
NM_145239.2:c.510_513del NP_660282.2:p.Ser172ArgfsTer3
XM_011545715.1:c.510_513del XP_011544017.1:p.Ser172ArgfsTer3
XM_011545716.1:c.510_513del XP_011544018.1:p.Ser172ArgfsTer3
XM_011545717.1:c.510_513del XP_011544019.1:p.Ser172ArgfsTer3
XM_011545718.1:c.510_513del XP_011544020.1:p.Ser172ArgfsTer3
XM_011545715.3:c.510_513del XP_011544017.1:p.Ser172ArgfsTer3
XM_017022887.2:c.510_513del XP_016878376.1:p.Ser172ArgfsTer3
XM_017022888.2:c.510_513del XP_016878377.1:p.Ser172ArgfsTer3
XM_017022889.2:c.510_513del XP_016878378.1:p.Ser172ArgfsTer3
NM_145239.3:c.510_513del MANE Select NP_660282.2:p.Ser172ArgfsTer3
NM_001256442.2:c.510_513del NP_001243371.1:p.Ser172ArgfsTer3
NM_001256443.2:c.510_513del NP_001243372.1:p.Ser172ArgfsTer3